ABSTRACT
Abca4 the murine ATP-binding cassette transporter retinal gene
ABCA7 adenosine triphoshate binding cassette protein A7 ABCC6 a gene on chromosome 16 (16p13.1) that causes
pseudoxanthoma elasticum when mutated ABCD1 the gene for ATP-binding cassette subfamily D
member 1 on the X chromosome (Xq28) ABCG5 the ATP-binding cassette subfamily G member 5
gene on chromosome 2 (2p21) ABCG8 a ATP-binding cassette subfamily G member 8
gene on chromosome 2 (2p21) ABCR ATP-binding cassette transporter
ABCR the ATP-binding cassette gene on chromosome 1 (1p21-p13) (also known as ABCA4, RP19, and STGD1)
AC anterior chamber ACA anticentromere antibody ACAID anterior chamber associated immune deviation ACal calcitonin derived amyloid ACE angiotensin-converting enzyme ACE gene for angiotensin-converting enzyme on
chromosome 17 (17q23) ACL Acromegaloid features, Cutis verticis gyrata and
Leukoma syndrome ACR acetylcholine receptor and American College of
Rheumatology ACTA1 the a-actin sketetal muscle gene on chromosome 1
(1q42.1) ACTA2 the a-2 actin smooth muscle gene on chromosome
10 (10q22-q24) ACTB the b-actin gene on chromosome 7 (7p22-p12) ACTC the a-actin cardiac muscle gene on chromosome 15
(15q14) (also known as ACTC1) ACTG1 the g-1 actin gene on chromosome 17 (17q25.3) ACTG2 the g-2 actin gene on chromosome 2 (2p13.1) ACTH adrenocorticotrophin ACys cystatin C derived amyloid AD autosomal dominant, Alzheimer disease AD1 an autosomal dominant familial type of Alzheimer
disease AD2 a type of Alzheimer disease associated with the
APOE*4 allele on chromosome 19 AD3 a type of Alzheimer disease caused by PSEN1
mutations AD4 a type of Alzheimer disease caused by PSEN2
mutations Ad5E1 early region 1 of human adenovirus type 5 Ad5E1A early region 1A of human adenovirus type 5 ADAID anterior chamber associated immune deviation ADAMTS10 the gene on chromosome 19 (19p13.3-p13.2)
that codes for a disintegrin-like and metalloproteinase with thrombospondin type 1 motif
ADC apparent diffusion coefficient ADCC antibody-dependent cell mediated cytotoxicity adCOD autosomal dominant cone dystrophy adCORD autosomal dominant cone-rod dystrophy adCSNB autosomal dominant congenital stationary night
blindness ADEN acute disseminated epidermal necrosis ADH aldehyde dehydrogenase ADM2 adrenomodulin 2; also known as intermedin adMD autosomal dominant macular dystrophy ADOA autosomal dominant optic atrophy ADP adenosine diphosphate
ADR adverse drug reaction adRP autosomal dominant retinitis pigmentosa ADTB3A the gene on chromosome 5 (5q14.1) that causes
Hermansky-Pudlak syndrome type 2 when mutated (also known as HPS1 and AP3B1)
ADVIRC Autosomal Dominant Vitreo Retino Choroidopathy
AEC ankyloblepharon-ectodermal dysplasia-cleft lip/ palate
AEF amyloid enhancing factor AEI/AE3 a pancytokeratin antibody aFGF acidic fibroblast growth factor AFib fibrinogen a-chain derived amyloid AGA the aspartlglycosaminidase gene on chromosome 4
(4q32-q33) AGC1 the aggregan gene on chromosome 15 (15q26.1) AGE advanced glycation end-product AGel gelsolin derived amyloid AgKS antigenic keratan sulfate AGL the glycogen debranching enzyme gene on
chromosome 1 (1p21) AGRN the tenascin gene on chromosome 1 (1pter-p32) AH gamma globulin heavy chain derived amyloid AHC acute hemorrhagic conjunctivitis AIAPP islet amyloid polypeptide derived amyloid AIDS acquired immune deficiency syndrome AIF apoptosis inducing factor AIMP2B intergral membrane protein derived amyloid AIns insulin derived amyloid AIPL1 the arylhydrocarbon-interacting receptor protein-
like 1 gene on chromosome 17 (17p13.1) (also known as LCA4)
AKC acute keratoconjunctivitis AKAP2 the gene for A-kinase anchor protein 2 on
chromosome 9 (9q31-q33) AKAP2 A-kinase anchor protein 2 AKer kerato-epithelin (transforming growth factor beta
induced protein) derived amyloid AKT a protein kinase product of an oncogene AKT1 an oncogene on chromosome 14 (14q32.3) AL amyloid protein L (amyloid light chain protein) Ala alanine ALac lactoferrin derived amyloid ALCL anaplastic large cell lymphoma ALDH aldehyde dehydrogenase ALDH1A1 aldehyde dehydrogenase family 1 , subfamily
A, member 1 ALDH3A1 aldehyde dehydrogenase family 3 , subfamily
A, member 1 ALDOA the fructose 1,6-biphosphate aldolase A gene on
chromosome 16 (16q22-q24) ALK anterior lamellar keratectomy ALL acute lymphoblastic leukemia ALSG aplasia of the lacrimal and salivary glands ALV avian leukosis virus ALys lysozyme derived amyloid AMD age-related macular degeneration AMed medin amyloid (lactadherin derived amyloid) AMP adenosine monophosphate AMS ablepharon-macrostomia syndrome An adult nucleus of crystalline lens
ANA antinuclear antibodies ANCA anti-neutrophil cytoplasmic antibody ANCL adult neuronal ceroid-lipofuscinosis ANG1 angiopoetin-1 ANG2 angiopoetin-2 Ank the mouse gene for progressive ankylosis ANKH a gene on chromosome 5 (5q15.2-p14.1) that is a
homolog of the murine Ank gene ANS 8-anilino-l-naphthalenesulfonate ANT adenine translocator, adenosine nucleotide
translocator (also known as ADP/ATP translocator) Anti-CCP anti-cyclic citrullinated peptide Anti-La an antibody to SS-B Anti-Ro an antibody to SS-A ANVOs abortive neovascular outgrowths Anx1 annexin 1 AP amyloid p-component AP sites apurinic/pyrimidinic sites Apaf-1 apoptotic protease activating factor 1 AP3B1 the gene on chromosome 5 (5q14.1) that causes
Hermansky-Pudlak syndrome type 2 when mutated (also known as HPS2 and ADTB3A)
APC antigen presenting cell; adenomatous polyposis coli; and the encoded product of the APC gene
APC the gene responsible for adenomatous polyposis coli APECED Autoimmune, PolyEndocrinopathy, Candidiasis,
and Ectodermal dystrophy aPL anti-phospholipid APO1 cell surface death receptor 2 (also known as CD95) APO2 death receptor 4 (DR4) (also known as tumor
necrosis factor related apoptosis-inducing ligand receptor 1[TRAILR1])
APO2L tumor necrosis factor-related apoptosis inducing ligand (TRAIL)
APO3 death receptor 3 (DR3) (also known as LARD, TRAMP and WSL1)
apoA apolipoprotein A APOA1 the gene for apolipoprotein AI on chromosome 11
(11q23) APOA2 the gene for apolipoprotein AII on chromosome 1
(1q21-q23) APOA4 the gene for apolipoprotein AIV on chromosome
11 (11q23) apoB apolipoprotein B APOB the gene for apolipoprotein B on chromosome 2
(2p24-p23) APOD the gene for apolipoprotein D on chromosome 3
(3q26.2-qter) apoE apolipoprotein E APOE the gene for apolipoprotein E on chromosome 19
(19q13.2) APP a amyloid precursor protein gene on chromosome 21
(21q) APro prolactin derived amyloid APrP prion protein derived amyloid APS antiphospholipid syndrome APUD cells Amine Precursor Uptake and
Decarboxylation cells AqH aqueous humor AQP aquaporin AQP0 aquaporin 0
AR autosomal recessive or aldose reductase ARA American Rheumatism Association (a former name
for the American College of Rheumatology) ARAT retinal acyltransferase arCOD autosomal recessive cone dystrophy arCORD autosomal recessive cone-rod dystrophy AREDS age-related eye disease study AREDSII age-related eye disease study II Arf the murine gene for a protein that stabilizes p53 ARF cyclin-dependent kinase inhibitor 2A (also known as
p14) Arg arginine ARIX a homolog of the Drosophila aristaless homeobox
gene on chromosome 11 (11q13.3-q13.4) arLCA autosomal recessive Leber congenital amaurosis ARN acute retinal necrosis arRP autosomal recessive retinitis pigmentosa ARS Axenfeld-Rieger syndrome ARSA the arylsulfatase A gene on chromosome 22
(22q13.31) ARSB the arylsulfatase B gene on chromosome 5
(5q11-q13) AS ankylosing spondylitis ASA the reduced form of ascorbic acid and arylsulfatase A ASAH the ceramidase gene on chromosome 8 (8p22-p21.3) ASD anterior segment dysgenesis Ash a murine gene that is expressed in retinal progenitor
cells ASM acid sphingomyelinase ASMD anterior segment mesenchymal dysgenesis Asn asparagine Asp aspartate ASPA the aspartocyclase gene on chromosome 17
(17pter-p13) ASPN the asporin gene on chromosome 9 (9q21.3-q22) AT ataxia telangiectasia Ath3 a murine gene that is expressed in retinal progenitor
cells Ath5 a murine gene that is expressed in retinal progenitor
cells ATM the gene on chromosome 11 (11q22.3) that causes
ataxia-telangiectasia when mutated ATP adenosine triphosphate ATP7A a copper transport P-type adenosine
triphosphatase gene on the X chromosome (Xq13) ATP7B a copper transport P-type adenosine
triphosphatase gene on chromosome 13 (13q14.3) ATPase adenosine triphosphatase ATTR transthyretin derived amyloid ATV acute transforming viruses AUG the codon for methionine AVM arteriovenous malformation
B2M the b2-microglobulin gene on chromosome 15 (15q21-q22)
b-HLH-Zip a family of transcription factors that bind to DNA as dimers
b2GP1 b2 glycoprotein 1 bTG b-thromboglobulin
B7 family a group of immunoadjuvant molecules BAD/Bad BCL2 antagonist of cell death BAER brainstem evoked response BALT bronchus associated lymphoid tissue Bax BCL2-associated X protein Bak BCL2 antagonist killer 1, also known as BAK1,
BCL2L7 BAK benzalkonium chloride BB an airgun with a smooth bore barrel BCC basal cell carcinoma B cell B lymphocyte BCD Bietti crystalline dystrophy BCG Bacillus Calmette-Gue´rin BCL-1 cyclin D1 (also known as PRAD1) Bcl-2 an anti-apoptotic factor (also known as B-cell
lymphoma 27 Bcl-3 oncogene B-cell lymphoma 3 (formerly Bcl-4) Bcl-XL a regulator of apoptosis found in mitochondrial
membranes Bcl-w a member of the bcl-2 family BCL2 the Bcl-2 gene on chromosome 18 (18q21.3) BCNU bis (chloroethyl) -1-nitrosourea BCOR the BCL6 corepressor gene on the X chromosome
(Xp11.4) BCR/ABL a fusion gene at the breakpoint cluster region on
chromosome 22 (22q11.27) BCS brittle cornea syndrome BCSH a gene that codes a component of the mitochondrial
respiratory chain complex III BD Behc¸et disease BDNF brain-derived neurotrophic factor BDUMP bilateral diffuse uveal melanocytic proliferation BE receptors binding apo-E lipoprotein BED Bornholm eye disease bFGF basic fibroblast growth factor (also known as FGF2) BFP biologic false-positive BGN the biglycan gene on the X chromosome (Xq28) BH domains a fragment of the Rho family (RhoGAPS)
with guanosine triphoshate hydrolase activity bHLH basic helix-loop-helix bHLHZip basic-helix-loop/leucine zipper Bid/BID BH3-interacting domain death agonist BIGH3 a former abbreviation for the TGFBI gene BIM/Bim a portion of the Bcl-2 family produced by the
BIM gene BIR baculoviral inhibitor of apoptosis (IAP) repeats BIR2 the second domain of baculoviral inhibitor of
apoptosis repeat BIR3 the third domain of baculoviral inhibitor of apoptosis
repeat BKV a human polyomavirus BLD basal laminar deposit (basal linear deposit) BLOC1S3 the gene on chromosome 19 (19q13) that causes
Hermansky-Pudlak syndrome type 8 when mutated bp base pairs BMI body mass index BMPR1A the gene for bone morphogenetic protein
receptor type IA on chromosome 10 (10q22.3) BMPR2 the bone morphogenetic protein receptor type II
gene on chromosome 2 (2q33) BMT bone marrow transplantation
Bok a BCL2 related protein involved in apoptosis BP benzo(a)pyrene, blood pressure BPAG1 bullous pemphigoid antigen 1 BPES blepharophimosis-ptosis-epicanthus inversus
syndrome BRCA1 breast cancer 1 gene on chromosome 17 (17q21) BRCA1 the growth inhibitory factor secreted by breast
epithelium that is encoded by the BRCA1 gene BRCA2 breast cancer 2 gene on chromosome 13
(13q12.3) Brn3b a murine gene for a transcription factor needed for
retinal ganglion cell differentiation Brn3b a murine transcription factor needed for retinal
ganglion cell differentiation BRUCE baculoviral inhibitor of apoptosis (BIR) repeat
containing ubiquitin-conjugating enzyme BSA bovine serum albumin BSE bovine spongioform encephalopathy (also known as
“mad cow disease”) bZIP basic region leucine zipper
c crystalline lens cortex C cytosine C1 first component of complement C1q q subfraction of first component of complement C1r r subfraction of first component of complement C1s s subfraction of first component of complement C2 second component of complement C2a a fragment of second component of complement C2b b fragment of second component of complement C3 third component of complement C3a a fragment of third component of complement C3b b fragment of third component of complement C3d d fragment of third component of complement C4 fourth component of complement C4b b fragment of fourth component of complement C4S chondroitin-4-sulfate C5 fifth component of complement C5a a fragment of fifth component of complement C5b b fragment of fifth component of complement C5b67 complex of C5b with C6 and C7 C6 sixth component of complement C6S chondroitin-6-sulfate C7 seventh component of complement C8 eighth component of complement C9 ninth component of complement Ca2þ calcium ions Ca2þ-stimulated ATPase calcium stimulated adenosine
triphosphatase CA cytosine-adenine dinucleotide CA15.3 cancer antigen 15.3 (an ocofetal antigen) CA4 the carbonic anhydrase IV gene on chromosome 17
(17q23.2) (also known as RP17) CACNA1F the calcium channel-voltge dependent alpha-IF
subunit on the X chromosome (Xp11.23) (also known as CSNB2)
CaGC calgranulin C CAK chronic actinic keratopathy
CALCA the (pro)calcitonin gene on chromosome 11 (11p15.2-p15)
CALLA common acute lymphoblastic antigen CALT conjunctiva associated lymphoid tissue CAM 5.2 an antibody that recognizes low molecular
weight cytokeratin CAMAK Cataract, Microcephaly, Arthrogryposis and
Kyphosis CAMFAK Cataract, Microcephaly, Failure to thrive,
Arthrogryposis and Kyphosis cAMP cyclic adenosine monophosphate CAM cell adhesion molecule CAM5.2 a pancytokeratin antibody cANCA cytoplasmic staining anti-neutrophil cytoplasmic
antibody Cap capsule CAR cancer-associated retinopathy CARD caspase recruitment domain CASR a gene on chromosome 3 (3q13.3-q21) that codes for
an extracellular calcium-sensing receptor CATT cytosine-adenine-thymine-thymine CBH cutaneous basophil hypersensitivity CBS the cystathionine beta-synthase gene on chromosome
21 (21q22.3) CCP cyclic citrullinated peptide CCR2 the chemokine CC motif receptor 2 gene on
chromosome 3 (3p21) CCR3 the chemokine CC motif receptor 3 CCR4 the chemokine CC motif receptor 4 CCR5 the chemokine CC motif receptor 5 gene on
chromosome 3 (3p21) CCRG cooperative cataract research group CCS Churg Strauss syndrome CD cluster of differentiation antigen CD4 marker for helper T lymphocytes CD8 marker for suppressor T lymphocytes CD11b receptor for C3bi (also known as CR3, Mac-1
antigen) CD11c receptor for C3bi and C3dg (also known as CR4) CD14 monocyte differentiation antigen (also known as
myeloid cell-specific leucine-rich glycoprotein) CD18 a leucocyte cell adhesion molecule (also known as
integrin-beta 2) CD19 CD19 B lymphocyte antigen CD19 the gene on chromosome 16(16p11.2) for the CD19 B
lymphocyte antigen Cd21 receptor for C3d (also known as CR2) CD25 interleukin 2 receptor alpha (also known as TAC
antigen) CD26 a T-cell activation antigen (also known as adenosine
deaminase complexing protein 2) CD31 platelet-endothelial cell adhesion molecule 1; a
vascular emdothelial cell marker CD34 hematopoietic progenitor cell antigen; a vascular
emdothelial cell marker CD35 receptor for C3b (also known as CR1) CD36 leukocyte differentiation antigen CD40 an immunoadjuvant molecule CD46 membrane cofactor protein; the measles virus
receptor
CD55 decay-accelerating factor for complement (also known as Cromer blood group)
CD59 protectin (also known as human leukocyte antigen MIC11)
CD62 also known as GMP-140 and granule membrane protein
CD68 a macrophage antigen (also known as macrosialin) CD80 an immunoadjuvant molecule CD86 an immunoadjuvant molecule CD91 low density lipoprotein receptor-related protein 1
(also known as apolipoprotein receptor) CD95 FAS (also known as aopotosis antigen 1 and FAS
antigen) CD99 surface antigen MIC2 CD117 stem cell factor receptor (also known as c-kit) CDB corneal dystrophy of Bowman layer and the
superficial stroma CDC Centers for Disease Control and Prevention Cdc27 cell division cycle 27 homolog CDH11 the cadherin 11 gene on chromosome on 17
(17q21-q22.1)) CDH23 the cadherin 23 gene on chromosome on 10 (10q22) Cdk cyclin-dependent kinase CDK climatic droplet keratopathy CDK4 cyclin-dependent kinase 4 CDKN2A the cyclin-dependent kinase inhibitor 2A gene on
chromosome 9 (9p21) cDNA complimentary deoxyribonucleic acid CDP cytidine diphosphate CEA carcinoembryonic antigen CERKL the ceramide kinase-like protein gene on
chromosome 2 (2q31.3) (also known as RP26) CETP cholesterol ester transfer protein CEV cell-associated virus CF complement fixation CFEOM congenital fibrosis of the extraocular muscles CFEOM1 congenital fibrosis of the extraocular muscles
type 1 CFEOM2 congenital fibrosis of the extraocular muscles
type 2 CFH complement factor H CFH the gene for complement factor H on chromosome 1
(1q32) CG cytosine-guanine dinucleotide cGMP cyclic guanosine monophosphate CGRP calcitonin gene-related peptide CHARGE association coloboma, heart defects, choanal
atresia, mental retardation, genitourinary defects, and ear anomalies
CHED congenital hereditary endothelial dystrophy CHED1 congenital hereditary endothelial dystrophy
type 1 CHED2 congenital hereditary endothelial dystrophy
type 2 CHIP 28 aquaporin 1 (also known as aquaporin-CHIP) CHM choroideremia CHRNA1 the gene for the a subunit of the acetylcholine
receptor on chromosome 2 (2q24-q32) CHRNB1 the gene for the b subunit of the acetylcholine
receptor on chromosome 17 (17p12-p11)
CHRND the gene for the d subunit of the acetylcholine receptor chromosome 2 (2q33-q34)
CHRND1 the gene for the d subunit of the acetylcholine receptor on chromosome 2 (2q33-q34)
CHRNE the gene for the e subunit of the acetylcholine receptor on chromosome 17 (17p13-p12)
CHRNE1 the gene for the e subunit of the acetylcholine receptor on chromosome 17 (17p13-p12)
CHRPE congenital hypertrophy of the retinal pigment epithelium
CHS1 the gene on chromosome 1 (1q34) that causes Che´diak-Higashi syndrome when mutated
CHST5 the carbohydrate sulfotransferase 5 gene on chromosome 16 (16q22)
CHST6 the carbohydrate sulfotransferase 6 gene on chromosome 16 (16q22)
CHX10 a gene that is abundantly expressed in the retina (also known as the homeobox 10 gene)
C-Fos a proto-oncogene involved in cellular proliferation c-IAP2 an inhibitor of apoptosis CIAS1 the gene on chromosome 1 (1q44) that is mutated in
familial cold hypersensitivity and the Muckel-Wells syndrome
c-Jun a proto-oncogene CIN conjunctival intraepithelial neoplasm CI-MPR cation-independent mannose-phosphate receptor CJD Creutzfeldt-Jakob disease Ckd4 cyclin-dependent kinases 4 CLDN19 the claudin 12gene on chromosome 1 (1p34.2) CLL chronic lymphocytic leukemia CLN ceroid lipofuscinosis, neuronal CLN1 ceroid lipofuscinosis, neuronal type 1 (also known
as infantile neuronal ceroid lipofuscinosis) CLN1 the palmitoyl-protein thioesterase-1 gene on
chromosome 1 (1p32) CLN2 ceroid lipofuscinosis, neuronal type 2 (also known
as late infantile neuronal ceroid lipofuscinosis) CLN2 the gene on chromosome 11 (11p15.5) that is
responsible for ceroid lipofuscinosis, neuronal type 2 CLN3 ceroid lipofuscinosis, neuronal type 3; also known as
juvenile neuronal ceroid lipofuscinosis CLN3 the gene on chromosome 16 (16p12.1) that is
responsible for ceroid lipofuscinosis, neuronal type 3 CLN4 ceroid lipofuscinosis, neuronal type 4 (also known
as adult neuronal ceroid lipofuscinosis) CLN5 ceroid lipofuscinosis, neuronal type 5 (also known
as variant late infantile neuronal ceroid lipofuscinosis) CLN5 the gene on chromosme 13 (13q21.1-q32) that is
responsible for ceroid lipofuscinosis, neuronal type 5 CLN6 ceroid lipofuscinosis, neuronal type 6 (also known
as variant late infantile neuronal ceroid lipofuscinosis) CLN6 the gene on chromosome 15 (15q21-q23) that is
responsible for ceroid lipofuscinosis, neuronal type 6 CLN7 ceroid lipofuscinosis, neuronal type 7 CLN8 ceroid lipofuscinosis, neuronal type 8 (also known
as Turkish variant late infantile neuronal ceroid lipofuscinosis)
CLN8 the gene on chromosome 8 (8pter-p22) that is responsible for ceroid lipofuscinosis, neuronal type 8
CLN9 ceroid lipofuscinosis, neuronal type 9
CLU gene for clusterin on chromosome 8 (8p21-p12) cm centimeter cM centimorgan CME cystoid macular edema CMV cytomegalovirus CNBr cyanogen bromide CNCG the gene on chromosome 4 (4p12) that codes for the
alpha subunit of the rod cyclic guanosine monophosphate-gated channel (also known as CNGA1 and CNCG1)
CNCG1 the gene on chromosome 4 (4p12) that codes for the alpha subunit of the rod cyclic guanosine monophosphate-gated channel (also known as CNCG and CNGA1)
CNGA cyclic nucleotide-gated channel CNGA1 the gene on chromosome 4 (4p12) that codes for
the alpha subunit of the rod cyclic guanosine monophosphate-gated channel (also known as CNCG and CNCG1)
CNGA3 the cyclic nucleotide-gated channel alpha-3 gene on chromosome 2 (2q11.2)
CNGB3 the cyclic nucleotide-gated channel beta-3 gene on chromosome 8 (8q21-q22)
CNS central nervous system CNV choroidal neovascularization CO2 carbon dioxide CoA coenzyme A CO-Ag a cornea associated antigen (also known as corneal
calgranulin C) COI a mitochondrial DNA cytochrome c oxidase subunit I
gene of respiratory Complex IV (also known as MTCO1)
COII a mitochondrial DNA cytochrome c oxidase subunit II gene of respiratory Complex IV (also known as MTCO2)
COIII a mitochondrial DNA cytochrome c oxidase subunit III gene of respiratory Complex IV (also known as MTCO3)
COD cone dystrophy COD1 the gene on the X chromosome (Xp11.4) for retinitis
pigmentosa guanosine triphosphate hydrolase regulator (also known as RP3, CORDX and RPGR)
COD2 a locus for cone dystrophy on the X chromosome (Xq27)
COD3 the gene for guanylate cyclase activator 1A on chromosome 6 (6p21.1) (also known as GUCA1A and GCAP1)
COD4 a locus for cone and cone-rod dystrophy on the X chromosome(Xq11-q13.1)
COG Children’s Oncology Group COL1A1 the collagen type 1 alpha-1 gene on chromosome
17 (17q21.31-q22) COL2A1 the collagen type II alpha-1 polypeptide gene on
chromosome 7 (7q22.1) COL3A1 the collagen type III alpha-1 polypeptide gene on
chromosome 2 (2q31) COL4A1 the collagen type IV alpha-1 polypeptide gene on
chromosome 13 (13q34) COL4A2 the collagen type IV alpha-2 polypeptide gene on
chromosome 13 (13q34)
COL4A3 the collagen type IV alpha-3 polypeptide gene on chromosome 2 (2q36-q37)
COL4A4 the collagen type IV alpha-4 polypeptide gene on chromosome 2 (2q36-q37)
COL4A5 the collagen type IV alpha-5 polypeptide gene on the X chromosome(Xp22.3)
COL4A6 the collagen type IV alpha-6 polypeptide gene on the X chromosome(Xp22.3)
Col5a1 the murine collagen type V alpha-1 polypeptide gene
COL5A1 the collagen type V alpha-1 polypeptide gene on chromosome 9 (9q34.2-q34.3)
COL5A2 the collagen type V alpha-2 polypeptide gene on chromosome 2 (2q31)
COL5A3 the collagen type V alpha-3 polypeptide gene on chromosome 19 (19p13.2)
COL6A1 the collagen type VI alpha-1 polypeptide gene on chromosome 21(21q22.3)
COL6A2 the collagen type VI alpha-2 polypeptide gene on chromosome 21(21q22.3)
COL6A3 the collagen type VI alpha-3 polypeptide gene on chromosome 2 (2q37)
COL7A1 the collagen type VII alpha-1 polypeptide gene on chromosome 3 (3p21.3)
COL8A1 the collagen type VIII alpha-1 polypeptide gene on chromosome 3 (3q12-q13)
COL8A2 the collagen type VIII alpha-2 polypeptide gene on chromosome 1 (1p34.3-p32.3)
Col8a1 the murine collagen type 8 alpha-1 polypeptide gene
Col8a2 the murine gene for collagen type 8 alpha-2 polypeptide
COL9A1 the collagen type IX alpha-1 polypeptide gene on chromosome 6 (6q13)
COL9A2 the collagen type IX alpha-2 polypeptide gene on chromosome 1 (1p33-p32.2)
COL10A1 the collagen type X alpha-1 polypeptide gene on chromosome 6 (6q21-q22.3)
COL11A1 a collagen type XI alpha-1 polypeptide gene on chromosome 1 (1p21)
COL11A2 a collagen type XI alpha-2 polypeptide gene on chromosome 6 (6p21.3)
COL12A1 a collagen type XII alpha-1 polypeptide gene on chromosome 6 (6q12-q13)
COL13A1 the collagen type XIII alpha-1 polypeptide human gene on chromosome 10 (10q22)
COL14A1 a collagen type XIValpha-1 polypeptide gene on chromosome 8 (8q23)
COL15A1 a collagen type XV alpha-1 polypeptide gene on chromosome 9 (9q21-q22)
COL16A1 a collagen type XVI alpha-1 polypeptide gene on chromosome 1 (1p34)
COL17A1 a collagen type XVII alpha-1 polypeptide gene on chromosome 10 (10q24.3)
COL18A1 a collagen type XVIII alpha-1 polypeptide gene on chromosome 21 (21q22.3)
COL19A1 a collagen type XIX alpha-1 polypeptide gene on chromosome 6 (6q12-q14)
COL20A1 a collagen type XX alpha-1 polypeptide gene on chromosome 20 (20q13.33)
COL21A1 a collagen type XXI alpha-1 polypeptide gene on chromosome 6 (6p12.3-11.2)
COL22A1 a collagen type XXII alpha-1 polypeptide gene on chromosome 8 (8q24.3)
COL23A1 a collagen type XXIII alpha-1 polypeptide gene on chromosome 5 (5q35)
COL24A1 the collagen type XXIV alpha-1 polypeptide gene on chromosome 1 (1p22.3)
COL25A1 a collagen type XXV alpha-1 polypeptide gene on chromosome 4 (4q25)
COL26A1 the collagen type XXVI alpha-1 polypeptide gene on chromosome 7 (7q22.1)
COL27A1 the collagen type XXVII alpha-1 polypeptide gene on chromosome 9 (9q32)
COL28A1 the collagen type XXVIII alpha-1 polypeptide gene on chromosome 7 (7p21.3)
COMP cartilage oligomeric matrix protein COMS Collaborative Ocular Melanoma Study ConA concanavalin-A CORD cone-rod dystrophy CORD2 the gene on chromosome 19 (19q13.3) that codes
for cone-rod otx photoreceptor homeobox transcription factor (also known as CRX)
CORD4 a locus for cone-rod dystrophy on chromosome 17 (17q)
CORD6 the retinal-specific guanylate cyclase gene on chromosome 17 (17p13.1) (also known as LCA1, GUCY2D, and RETGC1)
CORD7 autosomal dominant cone-rod dystrophy CORD8 a locus for cone-rod dystrophy on chromosome 1
(1q12-q24) CORD9 a locus for cone-rod dystrophy on chromosome 8
(8p11) CORDX the retinitis pigmentosa guanosine triphosphate
hydrolase regulator gene on the X chromosome (Xp11.4) (also known as RP3, RPGR and COD1)
CORDX2 a locus for cone-rod dystrophy on the X chromosome (Xq27-28)
CORDX3 a locus for cone-rod dystrophy on the X chromosome (Xp11-q13)
CoQ Coenzyme Q also known as ubiquinone COX10 a nuclear gene on chromosome 17 (17p12-p11.2)
that codes a component of the mitochondrial respiratory chain complex IV
COX15 a nuclear gene on chromosome 10 (10q24) that codes a component of the mitochondrial respiratory chain complex IV
CP cicatricial pemphigoid CP49 an early name for phkinin in the lens CP115 an early name for filensin; also known as
cytoskeletal protein 115 kD CPE ciliary pigmented epithelium; cyopathic effect CpG cytosine phosphate guanine dinucleotide C/PL cholesterol phospholipid ratio CR1 receptor for C3b (also known as CD35) CR2 receptor for C3d (also known as CD21) CR3 receptor for C3bi (also known as CD11b) CR4 receptor for C3bi and C3dg (also known as CD11c) CRALBP cellular retinaldehyde-binding protein CRALBP the cellular retinaldehyde-binding protein gene
on chromosome 15 (15q26) (also known as RLBP1)
CRB1 a gene on chromosome 1 (1q31-q32.1) that codes for a homolog of Drosophila Crumbs 1 (also known as RP12)
CRB(II) intestinal intracytoplasmic retinol-binding protein CRBP cellular retinol-binding protein; also known as
retinol-binding protein 1 (RBP1) CRBP2 cellular retinol-binding protein 2 CREBBP a gene on chromosome 16 (16p13.3) that codes for
a transcription factor for a cAMP-response element binding protein
CREST syndrome calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia syndrome
CRP C-reactive protein CRP the gene for C-reactive protein Crry complement receptor related protein CRS congenital rubella syndrome C-Rel a member of the Rel/NFkB family of transcription
factors CRX the gene on chromosome 19 (19q13.3) that codes for
cone-rod otx photoreceptor homeobox transcription factor (also known as CORD2)
CRYAA the alpha-A crystallin gene on chromosome 21 (21q22.3)
CRYAB the B-crystallin gene on chromosome 11 (11q22.1-q23.2)
Cryab the murine gene for aB-crystallin CRYBB1 the beta-B1 crystallin gene on chromosome 22
(22q11.2-q12.1) CRYBB2 the gene for bB2-crystallin on chromosome 22
(22q11.2) CRYBB3 the gene for bB3-crystallin on chromosome 22
(22q11.2) CRYGC the gene for gC-crystallin on chromosome 2
(2q33-q35) CRYGD the gene for gD-crystallin on chromosome 2
(2q33-q35) CRYGS the gene for g S-crystallin on chromosome 3
(3q25-qter) CS chondroitin sulfate CSF cerebrospinal fluid CSNB congenital stationary night blindness CSNB the calcium channel-voltge dependent alpha-IF
subunit on the X chromosome (Xp11.23) (also known as CACNA1F)
CSNB1 the nyctalopin gene on the X chromosome (Xp11.4) (also known as NYX)
CSNB3 the rod cyclic guanosine monophosphate phosphodiesterase beta subunit gene on chromosome 4 (4p16.3) (also known as PDE6B)
CSPG2 the versican gene on chromosome 5 (5q13-q14) CSPG6 the bamacan gene on chromosome 10 (10q25) CSS Churg-Strauss syndrome CST3 the cystatin C gene on chromosome 20 (20p11.2) CT computed tomography CTG a cytosine-thymine-guanine trinucleotide CTAP connective tissue activating protein CTGF connective tissue growth factor CTH ceramide trihexoside CTL cytotoxic T lymphocyte CTLA4 cytotoxic T lymphocyte-associated antigen 4 (also
known as CD152)
CTNS a cystine transporter gene on chromosome 17(17p) CtmPrP a transmembrane form of prion protein CTRP5 a collagen-like member of the C1q/tumor necrosis
factor superfamily gene on chromosome 11 (11q23.3) CTRP5 a collagen-like member of the C1q/tumor necrosis
factor superfamily CXCL12 chemokine CXC motif ligand 12 (also known as
stromal cell-derived factor 1 (SDF-1) CXCR2 chemokine (C-X-R) receptor 2 (also known as beta
interleukin 8 receptor) CXCR4 chemokine (C-X-R) receptor 4 Cu2þ cupric ions CU18 an antibody that recognizes breast carcinoma
associated antigen 225 CVD cardiovascular disease CVS chorionic villous sample cw cataract webbed (a mutant deer mouse) Cyclin A2 a cyclin encoded by a gene on chromosome 4
(4q27) Cyclin B1 a cyclin encoded by a gene on chromosome 5
(5q12) Cyclin C a cyclin encoded by a gene on chromosome 6
(6q21) Cyclin E2 a cyclin that controls the initiation of DNA
synthesis Cyclin G1 a cyclin encoded by a gene on chromosome 5
(5q32-q34) Cyclin T2 a cyclin encoded by a gene on chromosome 2
(2p14-q21.3) CYP1B1 the cytochrome p450 subfamily 1 polypeptide 1
gene on chromosome 2 (2p22-p21) CYP4V2 the cytochrome p450 family 4 subfamily V
polypeptide 2 gene on chromosome 4 (4q35.1) CYP27A1 the sterol 27-hydroxylase (also known as
cytochrome p450 subfamily XXVIIA polypeptide 1 gene on chromosome 2 (2q33-qter)
1D one-dimensional 1D SDS-PAGE one-dimensional sodium dodecyl sulfate-
polyacrylamide gel electrophoresis 2D DIGE two-dimensional difference gel electrophoresis 2D PAGE two-dimensional polyacrylamide gel
electrophoresis 3D three dimensional 5D4 an anti-keratan sulfate antibody D diopter D2-40 a lymphatic-endothelial marker recognizing
podoplanin Da Dalton DAF decay-accelerating factor DAG diaminoglycol DBS dried blood spot DC dendritic cell DCC the “delete in colon cancer” gene on chromosome 18
(18q21.3) DCN the biglycan gene on chromosome 12(12q13.2) DCR1 decoy receptor 1 (also known as TRAIL3, tumor
necrosis factor related apoptosis-inducing ligand
receptor 3 [TRAILR3], death receptor 3 [DR3], and TRAIL receptor without an intracellular domain [TRID], and tumor necrosis factor receptor superfamily member 10C [TNFRSF10C])
DcR2 tumor necrosis factor-related apoptosis inducing ligand 4 (TRAIL4)
DcR3 tumor necrosis factor-related apoptosis inducing ligand (TRAIL) (also known as APO2L)
Dct a murine gene involved in melanin production DED death effector domains DES the desmin gene on chromosome 2 (2q35) DESK Descemet stripping endothelial keratoplasty DG diacylglycerol DH delayed hypersensitivity DHA dehydroascorbic acid DHEAS dehydroepiandrosterone sulfate DHICA 5,6-dihydroxyindole-2-carboxylic acid DHRD Doyne honeycomb retinal dystrophy DHS dehydroascorbic acid Diablo direct IAP-binding protein with low PI; also known
as second mitochodria-derived activator of caspase (SMAC)
DIDMOAD diabetes insipidus, diabetes mellitus, optic atrophy, and deafness
DIF direct immunofluorescence DLBCL diffuse large B cell lymphoma DLD a gene that codes for a component of the pyruvate
dehydrogenase complex DLEK deep lamellar endothelial keratoplasty dLGN dorsal lateral geniculate nucleus DLN draining lymph node DM1 myotonic dystrophy type 1 (also known as classic
myotonic dystrophy) DM2 myotonic dystrophy type 2 (also known as proximal
myotonic dystrophy) DMD the dystrophin gene on the X chromosome (Xp21.2)
that causes Duchenne muscular dystrophy when mutated
DMN dimethylnitrosamine DMPK the dystrophia myotonica protein kinase gene on
chromosome 19 (19q13.3) DMS dimethylsulfate DNA deoxyribonucleic acid DNMT3B DNA methyltransferase 3B DR1 death receptor 1 (also known as TNFR1 and CD120a) DR2 death receptor 2 DR3 death receptor 3 (also known as lymphocyte-associated
receptor of death [LARD],TRAMP, WSL1 decoy receptor 1 [DCR1]; TRAIL3, tumor necrosis factor related apoptosis-inducing ligand receptor 3 [TRAILR3], TRAIL receptor without an intracellular domain [TRID], and tumor necrosis factor receptor superfamily member 25 [TNFRSF25])
DR4 death receptor 4 (also known as tumor necrosis factor - related apoptosis-inducing ligand receptor 4 [TRAILR4], DCR2, TRUNDD, and decoy receptor 2)
DR5 death receptor 5 (also known tumor necrosis factor receptor superfamily, member 10B [TNFR10B], tumor necrosis factor-related apoptosis-inducing ligand receptor 2 [TRAIL2], KILLER and TRICK2)
DR6 death receptor 6 (also known as tumor necrosis factor receptor superfamily member 21, osteoprotegenin [OPG], osteoclastogenesis inhibitory factor, and interleukin 1-beta convertase)
DRM desmin-related myofibillar myopathy DRP-1 dynanim-related protein 1 DS dermatan sulfate DS PG dermatan sulfate proteoglycan dsDNA double stranded DNA DsrNA-RT single standed desoxyribonucleic acid-reverse
transcriptase DSPG3 the epiphycan gene on chromosome 12 (12q21) dsRNA double stranded RNA DTI diffusion tensor imaging DTH delayed type hypersensitivity DTNBP1 the gene on chromosome 6 (6p22.3) that causes
Hermansky-Pudlak syndrome type 7 when mutated DTT dithiothreitol dUTP 2’-deoxyuridine 5’-triphosphate
E1A an adenovirus oncoprotein E1B a gene in adenovirus E2F a transcription factor that binds to the retinoblastoma
gene (RB1) E6 a gene in papillomaviruses E7 a gene in papillomaviruses EAF2 a component of the ELL-mediated RNA polymerase
II elongation factor EAU experimental autoimmune uveitis EB elementary body EBV Epstein-Barr virus EC vascular endothelial cell ECD1 an autoantigen with extracellular domains in
Sjo¨gren syndrome ECF-A eosinophilic chemotactic factor of anaphylaxis ECG electrocardiograph ECM extracellular matrix ECM1 the extracellular matrix protein 1 gene on
chromosome 1 (1q21) ECM2 the extracellular matrix protein 2 gene on
chromosome 9 (9q21.3-q22) ECP eosinophil cationic protein ECS extracellular space EDAR ectodysplasin A receptor EDRF endothelial dependendent relaxation factor EDS Ehlers-Danlos syndrome EDS1 Ehlers-Danlos syndrome type 1 EDTA ethylenediaminetetraacetic acid EDN eosinophil derived neurotoxin EDN1 gene for endothelin 1 on chromosome 6 (6p24-p23) EDN1 endothelin 1 EDNRA endothelin receptor type A EDNRA a gene for endothelin receptor type A on
chromosome 4 (4q31.2) EDNRB a gene for endothelin receptor type B on
chromosome 13 (13q22) EDNRB endothelin receptor type B EEC syndrome ectodactyly, ectodermal dysplasia, and
cleft lip/palate syndrome
EEG electroencephalography; electroencephalograph; electroencephalogram
EEP EDTA-extractable protein EETs epoxyeicosatrienoic acid EEV extracellular enveloped virus EFEMP1 the fibulin 3 gene on chromosome 2 (2p16) (also
known as FBLN3) EFTF eye field transcription factor e.g. for example EGF epidermal growth factor EGFR the gene for epidermal growth factor receptor on
chromosome 7 (7p12.3-p12.1) EIA enzyme-linked immunoassay EJ-ras an oncogene EKC epidemic keratoconjunctivitis EKG electrocardiogram EKH4 monoclonal antikeratin antibody predominantly
expressed in basal epithelial cells EKH5 monoclonal antikeratin antibody predominantly
expressed in eccrine secretory part of structures EKH6 monoclonal antikeratin antibody predominantly
expressed in normal eccrine and ductal structures ELAM-1 endothelial leukocyte adhesion molecule-1 ELISA enzyme-linked immunosorbent assay ENA extractable nuclear antigen ELN the elastin gene on chromosome 7 (7q11.2) ELOVL4 elongation of very long chain fatty acids-like 4 ELOVL4 the elongation of very long chain fatty acids-like 4
gene on chromosome 6 (6q14) EM erythema multiforme; electron microscopy EMA epithelial membrane antigen EMG electromyograph EMT epithelial-mesenchymal transition Endo endothelial cells ENOS the b-enolase gene on chromosome 17 (17pter-p12) ENPP2 the ectonucleotide pyrophosphatase/
phosphodiesterase gene on chromosome 8 (8q24.1) en embryonic nucleus of crystalline lens env a gene in Rous sarcoma virus Eo eosinophils EOG electro-oculography EOM extraocular muscle ep epithelium EP300 a gene on chromosome 22 (22q13) that codes for a
histone acetyltransferase (p300) that regulates transcription
Epi epithelial cells EPMR epilepsy with mental retardation (also known as
neuronal ceroid lipofuscinosis type 8) EPR electron spin resonance ER endoplasmic reticulum Erb-B an oncogene ERCC1 group 1 excision-repair cross-complemeting
protein ERCC6 group 6 excision-repair cross-complemeting
protein ERCC8 group 8 excision-repair cross-complemeting
protein ERG electroretinogram ERK extracellular signal-regulated kinase (a subgroup of
mitogen activated protein kinases, MAPKs)
ERM epiretinal membrane ERP early receptor potential ERT enzyme replacement therapy ESAF endothelial cell angiogenesis factor ESCB enhanced S-cone syndrome ESCS a gene on chromosome 15 (15q23) that codes for
nuclear receptor subfamily 2, group E, member 3 (also known as NR2E3 and PNR)
ESI electrospray ionization ESI-LC-MS/MS electrospray ionization liquid
chromatography tandem mass spectrometry ESR erythrocyte sedimentation rate EST expressed tags EVR1 exudative vitreoretinopathy type 1 EVR2 exudative vitreoretinopathy type 2 EVR3 exudative vitreoretinopathy type 3 EVR4 exudative vitreoretinopathy type 4
5-Fu 5-fluoruracil F6H8 perfluorohexyloctane FA fluorescein angiography Fab fragment antigen binding Factor VIII an essential blood clotting factor; a vascular cell
marker FACS fluorescence activated cell sorter FAD flavin adenine dinucleotide FADD Fas-assciated death domain FADH2 reduced flavin adenine dinucleotide FAH the fumarylacetoacetate hydrolase gene on
chromosome 15 (15q23-q25) FAP familial amyloid polyneuropathy, familial
adenomatous polyposis FAS/Fas apoptosis antigen 1 (APO1) (also known as CD95,
cell surface death receptor 2, and FAS antigen) FASL/Fasl Fas ligand Fb fibroblasts FBLN3 the fibulin 3 gene on chromosome 2 (2p16) (also
known as EFEMP1) FBLN5 the fibulin 5 gene on chromosome 14 (4q32.1) FBLN6 the fibulin 6 gene on chromosome 1 (1q24-q25) FBN1 the fibrillin-1 gene on chromosome 15 (15q21.1) FBN2 the fibrillin-2 gene on chromosome 5 (5q23-q31) FBN3 the fibrillin-3 gene on chromosome 19
(19p13.3-p13.2) Fc constant fragment of immunoglobulin; crystallizable
fragment of immunoglobulin FCD Fuchs corneal dystrophy fCJD familial Creutzfelt-Jakob disease FCMD Fukuyama congenital muscular dystrophy FCMD the fukudin gene on chromosome 9(9q31) FD fleck corneal dystrophy Fe2þ ferrous ions Fe3þ ferric ions FEVR familial exudative vitreoretinopathy FFA fundus fluorescein angiogram FFI fatal familial insomnia FMM fundus flavimaculatus FGA the fibrinogen a-chain gene on chromosome 4 (4q28)
FGF fibroblast growth factor FGF1 the fibroblast growth factor 1 (acidic fiboblast growth
factor) gene on chromosome 5 (5q31) FGF2 fibroblast growth factor 2 (also known as basic
fibroblast growth factor [bFGF]) FGF2 the gene for fibroblast growth factor 2 (basic
fibroblast gowth factor) on chromosome 4 (4q25-q27) Fgf2 the murine gene for fibroblast growth factor 2 (basic
fibroblast gowth factor) FGF8 fibroblast growth factor 8 FGF8 the gene for fibroblast growth factor 8 on
chromosome 10 (10q24) FGF9 fibroblast growth factor 9 FGF9 the gene for fibroblast growth factor 9 on
chromosome 13 (13q11-q12) Fgf10 the murine gene for fibroblast growth factor 10 FGF10 the gene for fibroblast growth factor 10 on
chromosome 5 (5p13-p12) FGFR1 fibroblast growth factor receptor 1 FH familial hypercholesterolemia FHI Fuchs heterochromic iridocyclitis FIP-2 an adenoviral protein FIS1 homolog of S. cerevisiae, also known as
tetratricipeptide repeat domain 11 FISH fluorescent in situ hybridization FKH7 the former term for forkhead box C1 transcription
factor now known as FOXC1 FKH7 a former term for the gene on chromosome 6 (6p25)
that codes for forkhead box C1 transcription factor; now known as FOXC1
FKRP4 the fukutin-related protein gene on chromosome 19 (19q13.3)
FLAIR fluid attenuated inversion recovery FLICE caspase 8 apoptosis-related cysteine protease FLIP FLICE inhibitory protein FLIPL FLICE-like inhibitory protein long-form FLIPS FLICE-like inhibitory protein short-form Flk1 vascular endothelial growth factor receptor 2 Flt-1 fms-like tyrosine kinase-1 FLNA the actin-binding protein filamin A FMN flavin mononucleotide FMOD the fibromodulin gene on chromosome 1 (1q32.1) fn fetal nucleus of the crystalline lens FN1 the fibronectin gene on chromosome 2 (2q31) FOXC1 the forkhead box C1 transcription factor gene on
chromosome 6 (6p25) (formerly known as FKHL7) Foxc1 the murine forkhead box C1 gene that codes for
transcription factor FOXC1 the forkhead box C1 gene on chromosome 6 (6p25) Foxc2 the murine forkhead box C2 gene that codes for
transcription factor FOXC2 the forkhead box C2 gene on chromosome 16
(16q24.3) Foxd1 a transcription factor FOXE3 the gene for forkhead box E3 on chromosome 1
(1p32) FOXL2 the forkhead transcription factor FOXL2 the forkhead transcription factor FOXL2 gene on
chromosome 3 (3q23) FOXP1 the glutamine-rich factor 1 gene on chromosome 3
(3p14.1)
FRAS1 the gene on chromosome 4 (4q) that is responsible for Fraser syndrome
FREM2 the FRAS1-related extracellular matrix protein 2 gene on chromosome 13 (13q13.3)
FSCN2 the retinal fascin homolog 2 actin binding protein gene on chromosome 17 (17q25) (also known as RP30)
Fuc fucose FUCA1 the a-L-fucosidase gene on chromosome 1 (1p34) FZD4 the gene on chromosome 11 (11q14-q21) that codes a
homolog of Drosophila frizzled 4 a member of the“frizzled” gene family
FZD6 the gene coding a homolog of Drosophila frizzled 6 a member of the“frizzled” gene family
g gram G guanine G protein a glycoprotein on the surface of rhabdoviruses G-protein a guanine nucleotide binding protein G0 the resting phase of the cell cycle G1 the presynthetic phase of the cell cycle G2 the phase in the cell cycle between the S and M phases G3P glyceraldehyde 3-phosphate G3PD glyceraldehyde 3-phosphate dehydrogenase G6P glucose-6-phosphate G6PC the glucose-6-phosphatase gene on chromosome 17
(17q21) G6PD glucose 6-phosphate dehydrogenase G6PT1 the glucose 6 phosphate transporter 1 gene on
chromosome 11 (11q23) GA geographic atrophy and gyrate atrophy GA733-1 a former name for the TACSTD2 gene on
chromosome 1 (1P32) GAA an acid a-glucosidase gene on chromosome 17
(17q25.2-q25.3) GABA gamma aminobutyric acid Gadd45 the gene product of the growth arrest and DNA
damage-inducible gene (GADD45A) GADD153 a DNA repair protein GADD153 a DNA repair protein gene on chromosome 12
(12q13.1-q13.2) gag a gene in Rous sarcoma virus GAG glycosaminglycan; codon for glutamic acid GAGs glycosaminoglycans Gal galactose Gal6ST galactose-6-sulfotransferase GALC galactosylceramidase GALC the galactosylceramidase gene on chromosome 14
(14q31) GalCer galactosylceramide GalNAc N-acetylgalactosamine GALNS the galactose 6-sulfatase gene on chromosome 16
(16q24.3) GALT gut associated lymphoid tissue GAPO growth retardation, alopecia, pseudoanodontia and
optic atrophy syndrome GAS6 growth arrest-specific 6 GB3 globotriaosylyceramide GBA the glucocerebrosidase gene on chromosome 1 (1q21) GBC globotribosyl ceramide
GBE1 the glycogen branching enzyme gene on chromosome 3 (3p12)
GBM glomerular basement membrane GCA giant cell arteritis and a guanine-cytosine-adenine
trinucleotide GCAP guanylate cyclase activation protein GCAP1 an isoform of a calcium-binding protein involved
in the replenishment of cyclic guanosine monophosphate in rods and cones (also kown as GUCA1A)
GCAP1 the gene for guanylate cyclase activator 1A on chromosome 6 (6p21.1) (also known as GUCA1A and COD3)
GCAP2 an isoform of a calcium-binding protein involved in the replenishment of cyclic guanosine monophosphate in rods and cones (also known as GUCA1B)
GCAP2 the gene for guanylate cyclase activator 1B on chromosome 6 (6p21.1) (also known as GUCA1B)
GCAP3 an isoform of calcium-binding protein involved in the replenishment of cyclic guanosine monophosphate in rods and cones (also known as GUCA1C)
GCD granular corneal dystrophy GCG a guanine-cytosine-guanine trinucleotide GCP the gene for green visual pigment on the X
chromosome (Xq28) GD Gaucher disease GDLD gelatinous drop-like corneal dystrophy GDP guanosine diphosphate GFAP glial fibrillary acidic protein GH growth hormone GHMP an enzyme superfamily that includes
galactokinase, homoserine kinase, mevalonate kinase and phosphomevonate kinase
GIT gastrointestinal tract GJ gap junction GJA8 the gap junction protein alpha-8 gene on
chromosome 1 (1q21.1) GJB2 the gap junction protein beta-2 (connexin 26) gene on
chromosome 13 (13q11-q12) GLA the a-galactosidase A gene on the X chromosome
(Xq22-24) Glb1 the murine gene that codes b-galactosidase GLB1 b-galactosidase GLB1 the acid b-galactosidase gene on chromosome 3
(3p21.33) Glc glucose GLC3A the locus for primary congenital glaucoma type 3
on chromosome 2 (2p21-2p25), where there are homozygous mutations in the cytochrome P4501B1 gene (CYP1B1)
GLI glioma associated oncogene GLRX the glutaredoxin gene on chromosome 5 (5q14) Glu glutamate GluCer glucosylceramide GLUT1 the glucose transporter 1 gene on chromosome 1
(1p35-p31.3) Gly glycine GlyNAc6St N-acetylglucosamine 6-O-sulfotransferase GM2A the GM2-activator protein gene on chromosome 5
(5q31.3-q33.1)
GM-CSF granulocyte-macrophage colony stimulating factor
GMP-140 granule membrane protein GNA the N-acetylglucosamine 6-sulfatase gene on
chromosome 12 (12q14) GNAS the guanine nucleotide-binding protein, alpha-
stimulating activity polypeptide 1 gene on chromosome 20 (20q13.2)
GNAS1 the guanine nucleotide-binding protein, alphastimulating activity polypeptide 1 gene on chromosome 20 (20q13.2)
GNAT1 the guanine nucleotide-binding protein alphatransducing activity polypeptide 1 gene on chromosome 3 (3p21)
GNAT2 the guanine nucleotide-binding protein alphatransducing activity polypeptide 2 gene on chromosome 1 (1p13.1)
GNPTAB the N-acetylglucosamine-1-phosphotransferase gene on chromosome 12 (12q23.3)
GNPTG the gene on chromosome 16 (16q) for the gamma subunit of N-acetylglucosamine-1-phosphotransferase
gp75 a differentiation antigen of melanocytes GP100 a melanocyte protein (also known as melanocyte
protein 17) GPC1 the glypican 1 gene on chromosome 2 (2q35-q37) GPC2 the glypican 2 gene on chromosome 7 (7q22.1) GPC3 the glypican 3 gene on the X chromosome (Xq26) GPC4 the glypican 4 gene on the X chromosome (Xq26) GPC5 the glypican 5 gene on chromosome 13 (13q32) GPC6 the glypican 6 gene on chromosome 13 (13q32) GPCR G-protein coupled receptor Gpr2a a murine gene on chromosome 16 GRIPs glypican-related integral membrane proteoglycans GRK1 the rhodopsin kinase gene on chromosome 13
(13q34) (also known as RHOK) GRM6 the metabotropic glutamate receptor 6 gene on
chromosome 5 (5q35.3) GRO (MGSA) a cytokine GRODS granular osmiophilic deposits GSD glycogen storage diseases GSH glutathione reduced form GSL glycosphingolipids GSN the gelsolin gene on chromosome 9 (9q34) GSS Gerstmann-Sta¨ussler-Scheinker disease GSSG oxidized glutathione GST glutathione S-transferase GST 5.6 an isoenzyme of glutathione S-transferase GST 7.4 an isoenzyme of glutathione S-transferase GSTM1 the glutathione S-transferase mu 1(mGST-1) gene
on chromosome 1 (1p13.3) GSTP1 the gene for glutathione S-transferase pi 1 on
chromosome 11 (1q13) GSTT1 glutathione S-transferase theta 1 GSTT1 the gene for glutathione S-transferase theta 1 (GST-
T1) on chromosome 22 (22q11.2) GTM3 a transformed/immortalized trabecular meshwork
cell strain GTP guanosine triphosphate GTPase guanosine triphosphate hydrolase GUCA1A an isoform of a calcium-binding protein
involved in the replenishment of cyclic guanosine
monophosphate in rods and cones (also kown as GCAP1)
GUCA1A the gene for guanylate cyclase activator 1A on chromosome 6 (6p21.1) (also known as COD3 and GCAP1)
GUCA1B an isoform of a calcium-binding protein involved in the replenishment of cyclic guanosine monophosphate in rods and cones (also known as GCAP2)
GUCA1C an isoform of calcium-binding protein involved in the replenishment of cyclic guanosine monophosphate in rods and cones (also known as GCAP3)
GUG codon for valine GUSB the b-D-glucuronidase gene on chromosome 7
(7q21.11) GUCY2D retinal guanylate cyclase-1 (also known as
RetGC1) GUCY2D the retinal-specific guanylate cyclase gene on
chromosome 17 (17p13.1) (also known as CORD6, LCA1, and RETGC1)
GVF Goldmann visual field Gy grey (1GY=100rad=J/kg=m2/s2) GYS2 the glycogen synthase gene on chromosome 12
(12p12.3)
5-HT 5-hydroxytryptamine 5-HETE 5-hydroxyeicosatetraenoic acid 12-HETE 12-hydroxyeicosatetraenoic acid 12(R)-HETE 12(R)-hydroxyeicosatetraenoic acid 15-HETE 15-hydroxyeicosatetraenoic acid H heparin H2O2 hydrogen peroxide HA hyaluronic acid (also known as hyaluran) HAMP a gene on chromosome 19 (19q13) that causes
hemochromatosis when mutated HAV hepatitis A virus HbA adult hemoglobin HbC hemoglobin C HB-EGF heparin-binding epidermal growth factor-like
growth factor HbF fetal hemoglobin HBID hereditary benign intraepithelial dyskeratosis HBO hyperbaric oxygen HbS hemoglobin S (sickle cell hemoglobin) HbSC hemoglobin SC HBV hepatitis B virus HBVcAg hepatitis B virus core antigen HBVsAg hepatitis B virus surface antigen HCV hepatitis C virus HD homeodomain HDL high density lipoprotein HBV hepatitis B virus HBVsAg hepatitis B virus surface antigen HCS hyperferritinemia-cataract syndrome HDM2 double minute gene (also known as MDM2) HDM2 the double minute 2 gene, also known as MDM2 HDV hepatitis D virus HEP high-energy phosphates
Hes1 a murine gene that is expressed in retinal progenitor cells
HESX1 a gene on chromosome 3 (3p21.2-p21.1) known as the homeobox gene expressed in ES cells and as the Rathke pouch homeobox gene
HETEs hydroxyeicosatetraenoic acids HEXA the a-subunit of b-hexosaminidase gene on
chromosome 15 (15q23-q24) HEXA an isoform of b-hexosaminidase consisting of an a-
and b-subunit HEXB the b-subunit of b-hexosaminidase gene on the
chromosome 5 (5q13) HEXB an isoform of b-hexosaminidase consisting of two b-
subunits HFE a gene on chromosome 6 (6p) that causes
hemochromatosis when mutated HFMD hand-foot and mouth disease Hg mercury HGF hepatocyte growth factor HGF the gene for hepatocyte growth factor on
chromosome 7 (7q21.1) HGD the homogentisate 1,2-dioxygenase gene on
chromosome 3 (3q21-q23) HGSNAT the acetyl-CoA-glucosamine N-acetyltransferase
gene on chromosome 8 (8p11.1) HHV8 human herpes virus 8 HI hemagglutination inhibition HIF hypoxia-inducible factor HIF the hypoxia-inducible transcription factor-1 gene on
chromosome 14 (14q21-q24) HIFa hypoxia-inducible factor alpha His histidine HIV human immunodeficiency virus HDL high density lipoprotein HDL-1 high density lipoprotein fraction 1 HDL-2 high density lipoprotein fraction 2 HDL-3 high density lipoprotein fraction 3 HEP high energy phosphates HGD the homogentisate 1,2 dioxygenase gene on
chromosome 3 (3q21-q23) HHV-6 human herpes virus 6 HHV-8 human herpes virus 8 HK hexokinase HLA human leukocyte antigen HLA-A11 haplotype of human leukocyte antigen (HLA) HLA-B40 haplotype of human leukocyte antigen (HLA) HLA-B51 haplotype of human leukocyte antigen (HLA) HLA-B87 haplotype of human leukocyte antigen (HLA) HLA-DR class II histocompatibility antigen HLA-DR2 haplotype of class II histocompatibility antigen HLA-DR4/DRW53 haplotype of class II histocompatibility
antigen HLA-DR15 haplotype of class II histocompatibility
antigen HLA-DR17 haplotype of class II histocompatibility antigen HLA-DR51 haplotype of class II histocompatibility antigen HLA-DRB1 haplotype of class II histocompatibility
antigen HLE human lens epithelium HLOD hierachical level of detail; heterogeneity likelihood
of the odds (lod) score
HMB45 antibody that reacts with a neuraminidase sensitive oligosaccharide side chain of a glycoconjungate in immature melanosomes
HMB50 antibody that recognizes a different epitope on the same antigen in melanoctes as HMB45
HMG hydroxymethylglutaryl HMW kininogen high molecular weight kininogen HNK-1 human natural killer-1; a marker for the astrocyte
type 1 precursor HPETEs hydroperoxyeicosatetraenoic acids HPF high power field HPLC high pressure liquid chromatography HPS1 the gene on chromosome 10 (10q23.1) that causes
Hermansky-Pudlak syndrome type 1 when mutated HPS2 the gene on chromosome 5 (5q14.1) that causes
Hermansky-Pudlak syndrome type 2 when mutated (also known as ADTB3A and AP3B1)
HPS3 the gene on chromosome 3 (3q24) that causes Hermansky-Pudlak syndrome type 3 when mutated
HPS4 the gene on chromosome 22 (22q11.2-q12.2) that causes Hermansky-Pudlak syndrome type 4 when mutated
HPS5 the gene on chromosome 11 (11p15-p13) that causes Hermansky-Pudlak syndrome type 5 when mutated
HPS6 the gene on chromosome 10 (10q24.32) that causes Hermansky-Pudlak syndrome type 6 when mutated
HPV human papilloma virus HPV16 human papilloma virus type 16 hr hour HRP horseradish peroxidase HRPT2 hyperparathyroidism-2 HRPT2 the gene on chromosome 1 (1q25-q31) responsible
for hyperparathyroidism-2 HS heparan sulfate HSF4 the gene for heat shock transcription factor-4 on
chromosome 16 (16q22.12) HSK herpetic stromal keratitis HSP heat shock protein HSP27 heat shock protein 27 HSP40 heat shock protein 40 HSP60 heat shock protein 60 HSPB1 the heat shock protein 27 gene on chromosome 7
(7q11.23) HSPD1 the heat shock protein 60 gene on chromosome 2
(2q33.1) HSPF1 the heat shock protein 40 gene on chromosome 19
(19p13.2) HSPG2 the perlecan gene on chromosome 1 (1p36.1) HSV herpes simplex virus HSV-1 herpes simplex virus type 1 HSV-2 herpes simplex virus type 2 HTGL hepatic triglyceride lipase HTLV-1 human T cell leukemia virus 1 HTLV-2 human T cell leukemia virus 2 HtrA2 HtrA serine peptidase 2 (also known as serine
proteinase 25) HUMARA human androgen-receptor gene on the X
chromosome (Xq11.2-q12) HV-B herpes virus B HYAL1 the hylauronidase gene on chromosome 3
(3p21.3-p21.2)
I isotropic IAP inhibitor of apoptosis IAPP the islet amyloid polypeptide gene on chromosome
12 (12p12.3-p12.1) IBD identity by descent ICA internal carotid artery ICAM intercellular adhesion molecule ICAM-1 intercellular adhesion molecule-1 ICAM-2 intercellular adhesion molecule-2 ICAM-3 intercellular adhesion molecule-3 ICE syndrome the irido-corneal-endothelial syndrome
that includes iris nevus syndrome, Chandler syndrome, and essential iris atrophy
ICZ inner collagenous zone ID3 A transcription factor inhibitor of DNA binding 3 IDL intermediate density lipoproteins IDO indoleamine pyrrole 2,3 dioxygenase IDS the iduronate-2 sulfatase gene on the X chromosome
(Xq28) IDUA the a-L-iduronidase gene on chromosome 4 (4p16.3) IEF isoelectric focusing IEV intracelluar enveloped virus IF immunofluorescence IFA indirect fluorescent antibody (also
immunofluoresecent antibody) IFk B nuclear factor of kappa light chain enhancer in B cells
inhibitor IFN interferon IFNa interferon alpha IFNb interferon beta IFNg interferon gamma Ig immunoglobulin IgA immunoglobulin A IgD immunoglobulin D IgE immunoglobulin E IGF insulin-like growth factor IGF1 insulin like growth factor 1 IGF2 insulin like growth factor 2 IgG immunoglobulin G IgG1 a subgroup of immunoglobulin G IgG2 a subgroup of immunoglobulin G IgG3 a subgroup of immunoglobulin G IgG4 a subgroup of immunoglobulin G IgGk immunoglobulin G kappa IGHD the immunoglobulin delta heavy chain gene on
chromosome 14 (14q32.33) IGHE the immunoglobulin epsilon heavy chain gene on
chromosome 14 (14q32.33) IGHG1 the gamma immunoglobulin heavy chain gene on
chromosome 14 (14q32.33) IGHM the immunoglobulin mu heavy chain gene on
chromosome 14(14q32.33) IGLJ the gene for immunoglobulin k or l light chain on
chromosome 22 (22q11.2) IgM immunoglobulin M IHA indirect hemagglutination IIH idiopathic intracranial hypertension (also known as
pseudotumor cerebri) IIRC International Intraocular Retinoblastoma
Classification iNOS inducible nitric oxide synthase
IL interleukin IL1 interleukin 1 IL1a interleukin 1 alpha IL1b interleukin 1 beta IL2 interleukin 2 IL2 the interleukin 2 gene on chromosome 4 (4q26-q27) IL3 interleukin 3 IL4 interleukin 4 IL5 interleukin 5 IL6 interleukin 6 IL7 interleukin 7 IL8 interleukin 8 IL9 interleukin 9 IL10 interleukin 10 IL12 interleukin 12 IL18 interleukin 18 IL1A the interleukin 1 alpha gene on chromosome 2 (2q14) IL1B the interleukin 1 beta gene on chromosome 2 (2q14) IL1RN the interleukin 1 receptor antagonist gene on
chromosome 2 (2q14.2) IL2R interleukin 2 receptor IL18 the interleukin 18 gene on chromosome 11
(11q22.2-q22.3) IL8RB IL 8 receptor beta gene on chromosome 2 (2q35) Ile isoleucine ILGF2 insulin-like growth factor 2 ILL inner limiting lamina of retina ILM inner limiting membrane of retina IMPDH1 the inosine monophosphate dehydrogenase 1
gene on chromosome 7 (7q32.1) (also known as RP10) IMV intracellular mature virus INCL infantile neuronal ceroid-lipofuscinosis iNOS inducible nitric acid oxide synthase INS the insulin gene on chromosome 11 (11p15.5) InsP3 inositol 1,4,5-triphosphate IOL prosthetic intraocular lens IOP intraocular pressure IPCV idiopathic polypoidal choroidal vasculopathy IP1 inositol phosphate IP2 inositol biphosphate IP3 inositol triphosphate IPE iris pigmented epithelium IPM interphotoreceptor matrix IRBP interphotoreceptor cell-binding protein (also known
as interstitial retinol-binding protein) IRE iron-responsive element IRMA intraretinal microvascular abnormality IRP iron regulatory protein ISCOM immunostimulatory complexes ISSD infantile sialic acid storage disease ISSVA Internatioanl Society for the Study of Vascular
Anomalies ITM2B the integral membrane protein 2B gene on
chromosome 13 (13q14)
JA juvenile rheumatoid arthritis j-Bid a cleavage product of BH3-interacting domain death
agonist (BID) JCT juxtacanalicular connective tissue
JCV a human polyomavirus JIA juvenile idiopathic arthritis JNCL juvenile neuronal ceroid-lipofuscinosis JOAG juvenile open angle glaucoma JNK c-Jun N-terminal protein kinase JNKK1 mitogen-activated protein kinase 4 (also known as
MAP2K4)
Kþ potassium ion K cell killer T lymphocyte kb kilobase KC keratoconus KCS keratoconjunctivitis sicca KD Kawasaki disease kDa kilodalton Ker keratinocyte KERA the keratocan gene on chromosome 12 (12q22) Ki-67 a marker for cell cycle proliferation (also known as
Mib-1) KID Keratitis, Ichthyosis, Deafness syndrome KIF21A the kinesin family member 21A gene on
chromosome 12 (12q12) KGF keratocyte growth factor Ki-ras a family of retrovirus-associaited DNA sequences
(ras) originally isolated from Kirsten murine sarcoma virus
KLHL7 an antigen that elicits autoantibodies in Sjo¨gren syndrome
KLHL12 an antigen that elicits autoantibodies in Sjo¨gren syndrome
KM Michaelis constant KP keratic precipitate KRT3 the cytokeratin 3 gene on chromosome 12 (12q13) KRT12 the cytokeratin 12 gene on chromosome 17
(17q12) KS keratan sulfate; Kaposi sarcoma KS-I corneal keratan sulfate KS-II cartilaginous keratan sulfate KS-IIA cartilaginous keratan sulfate containing a-(1,3)-
fucose and a-(2,6)-linked N-acetyl-neuraminic acid residues
KS-IIB cartilaginous keratan sulfate lacking a-(1,3)-fucose and a-(2,6)-linked N-acetyl-neuraminic acid residues
KSHV Kaposi sarcoma associated herpesvirus KSPG keratan sulfate proteoglycan
L lutein L cone red cone LADD syndrome lacrimo-auriculo-dento-digital
syndrome LAK lymphokine activated killer cell LAMP lysosome associated membrane protein LANA latency-associated nuclear antigen LAR a transmembrane phosphotyrosine phosphatase LARD lymphocyte-associated receptor of death (also
known as death receptor 3 [DR3]) LASER light amplication by stimulated emission of
radiation
LASIK laser assisted in situ keratomileusis LATs latency-associated transcripts LBL lymphobastic B cell lymphoma LC liquid chromatography LCA leukocyte common antigen and Leber congenital
amaurosis LCA1 the retinal-specific guanylate cyclase gene on
chromosome 17 (17p13.1) (also known as CORD6, GUCY2D, and RETGC1)
LCA2 the retinal pigment epithelium-specific 65 kDa protein gene on chromosome 1 (1p31) (also known as RPE65 and RP20)
LCA3 a locus for Leber congenital amaurosis on chromosome 14 (14q23.3)
LCA4 the arylyhydrocarbon-interacting receptor proteinlike 1 gene on chromosome 17 (17p13.1) (also known as AIPl1)
LCA5 a locus for Leber congenital amaurosis on chromosome 6 (6q14.1)
LCA6 the RPGR-interating protein 1 gene on chromosome 14 (14q11) (also known as RPGRIP1)
LCA9 a locus for Leber congenital amaurosis on chromosome 1 (1p36)
LCAT lecithin-cholesterol-acyltransferase LCAT the lecithin-cholesterol-acyltransferase gene on
chromosome 16 (16q22.1) LCD lattice corneal dystrophy LC-MS/MS liquid chromatography-mass spectrometry/
mass spectrometry LD linkage disequilibrium LD syndrome lymphadema-trichiasis syndrome LDH lactic dehydrogenase LDH the lactate dehydrogenase gene on chromosome 11
(11p15.4) LDL low density lipoprotein LE lupus erythematosus LEC CAMs lectin-epithelial growth factor-complement
binding adhesion molecules LECAM-1 lectin-EGF-complement adhesion molecule LEF lymphoid enhancer-binding factor LEMNDS a gene on chromosome 12 (12q14) that causes the
Buschke-Ollendorff syndrome when mutated Lens1 a murine gene involved in the induction of the lens
placode LEOPARD multiple lentigines, electrocardiographic
conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, sensorineural deafness
Leu leucine LeY Lewis Y antigen LFA-1 synonym for CD18 LFB luxol fast blue LGL large granular lymphocytes L-GPs lactosaminoglycan-glycoproteins LGV lymphogranuloma venereum LHON Leber hereditary optic neuropathy Lhx2 a murine eye field transcription factor LI labelling index LINCL late infantile neuronal ceroid-lipofuscinosis LIPA an acid lipase gene on chromosome 10 (10q24-q25) LMW low molecular weight
LMX1B a gene on chromosome 9 (9q34.1) that causes nail patella syndrome when mutated
LMYC an oncogene on chromosome 1 (1p32) with homology to a small region of bothMYC and NMYC (also known as MYCL1)
LN lymph node LOCS lens opacities case-control classification system LOCS III lens opacity classification system III LOD logarithm of the odds lop a mutant mouse with lens opacities LORD late-onset retinal degeneration LOX-1 lectin like oxidized low-density lipoprotein
receptor-1 LOXL1 the gene for lysyl oxidase-like 1 on chromosome 15
(15q22) LPL lipoprotein lipase LPS lipopolysaccharide LRAT lecithin retinol acyltransferase LRAT the lecithin retinol acyltransferase gene on
chromosome 4 (4q31.1) LRN laboratory response network LRP5 low density lipoprotein receptor-related protein 5 LRP5 the low density lipoprotein receptor-related Protein
5 on chromosome 11 (11q13.4) LRR leucine-rich repeat LSC long-space collagen LSD lysosomal storage disease LTB4 leukotriene B4 LTBP1 the latent TGFb binding protein 1 gene on
chromosome 2 (2p12-q22) LTBP2 the latent TGFb binding protein 2 gene on
Chromosome 14 (14q24) LTBP-1 latent TGFb binding protein 1 LTBP-2 latent TGFb binding protein 2 LTC4 leukotriene C4 (previously known as SRS-A) LTD4 leukotriene D4 LTE4 leukotriene E4 LTF the lactoferrin gene on chromosome 3 (3q21-q23) LTR long terminal repeat, log-transformed refraction LUM the lumican gene on chromosome 12 (12q21.3-q22) Lys lysine
LYVE-1 lymphatic vessel endothelial receptor 1 LYZ the gene for lysozyme
4MUGS 4-methylumbelliferyl-N-acetylglucosamine-6sufate
5mc 5-methylcytosine 7MG methylation of guanine on nitrogen in the 7th
position m meter M molar; also the phase of mitosis in the cell cycle M1S1 a former name for the TACSD2 gene on chromosome
1 (1p32) M-cell a special epithelial cell in the gut Mab monoclonal antibody Mab21L1 a murine gene for a homologue of C. elegans cell
fate-determinng protein mab21 that is expressed in the retina
MAC membrane attack complex
MadCAM1 mucosal addressin cell adhesion molecule MAF the gene for v-maf avian musculoaponeurotic
fibrosarcoma oncogene homolog on chromosome 16 (16q22-q23)
Maf a murine gene that codes for a transcription factor involved in the regulation of crystalline lens induction and development
MAGE melanoma antigen gene MAGE-3 melanoma-specific antigen 3 MAGP-1 microfibril-associated glycoprotein MALDI matrix-assisted laser desorption ionization MALDI-TOF MS matrix-assisted laser desorption
ionization-time of flight mass spectrometry MALT mucosa associated lymphoid tissue Man mannose MAN2B1 the a-mannosidase class 2B1-gene on
chromosome 19 (19cen-q12) MANBA the b-mannosidase gene on chromosome 4
(4q22-q25) Man-6-P mannose 6-phosphate MAP mitogen-activated protein MAP2K mitogen-activated protein kinase kinase MAP3K mitogen-activated protein kinase kinase kinase MAPK mitogen-activated protein kinase MAPK14 the gene for mitogen-activated protein kinase
p38 MART-1 melanoma antigen recognized by T cells (also
known as Melan-A) MAS McCune-Albright syndrome Mash1 a murine gene involved in retinal differentiation Math3 a murine gene involved in retinal development Math5 a murine gene involved in retinal development MATP a membrane-associated transporter protein gene on
chromosome 5 (5p13.3) MBP major basic protein (product of eosinophils); myelin
basic protein MBL mannose-binding lectin MBP myelin basic protein MC mast cells MCAF macrophage/monocyte chemotactic and activating
factor MCB membranous cytoplasmic body MCD macular corneal dystrophy mcg microgram; same as mg MCL mantle cell lymphoma MCL1 a gene on chromosome 1 (1q21) originally isolated
from the ML-1 myeloid leukemia cell line MCOLN1 the mucolipin 1 gene on chromosome 19
(19p13.3-p13.2) M cone green cone MCOPS5 microphthlamia syndromic 5 MCP metacarpophalangeal MCP-1 monocyte chemotactic protein-1 Md myelin-deficient MD macular dystrophy MDA malondialdehyde MDP muramyl dipeptide MDPF 2-methoxy-2,4-diphenyl-3(2H)-furanone MDM2 double minute 2 gene on chromosome 12
(12q14.3-q15) (also known as HDM2) MEB Muscle-Eye-Brain
MECD Meesmann corneal dystrophy MEI metastatic efficiency index MEFV the Mediterranean fever gene on chromosome 16
(16p13) MEK MARK/ERK kinase MEL-14 lymphocyte homimg receptor in mice Melan-A melanoma antigen recognized by T cells (also
known as MART-1) MELAS myoclonic epilepsy, lactic acidosis, and stroke-like
episodes MEN multiple endocrine neoplasia MEN1 the gene on chromosome 11 (11q13) that is
responsible for multiple endocrine neoplasia syndrome type 1A
MEN2A multiple endocrine neoplasia syndrome type 2A MEN2B multiple endocrine neoplasia syndrome type 2B MER A novel tyrosine kinase MERRF myoclonic epilepsy with red ragged fibers MERTK the MER tyrosine kinase proto-oncogene on
chromosome 2 (2q14.1) MFG-E8 milk-fat-globule-EGF-factor 8 MFGE8 the lactadherin gene on chromosome 15 (15q25) MFN1 mitofusin 1 MFN2 mitofusin 2 MFRP the membrane-type frizzled-related protein gene on
chromosome 11 (11q23.3) MFRP membrane-type frizzled-related protein Mg magnesium Mg2þ magnesium ions MGSA (GRO) a cytokine mGST-1 glutathione S-transferase mu MHC major histocompatibility complex MIA melanoma inhibitory activity Mib-1 a marker for cell cycle proliferation; also known as
Ki-67 MICA the major histocompatibility complex class 1 chain
related gene A on chromosome 6 (6p21.3) MIF macrophage migration inhibitory factor MIP major intrinsic protein of lens (also known as MP26
and aquaporin-0) MIP the MIP (aquaporin-0) gene on chromosome 12
(12q13) MITF microphthalmia transcription factor Mitf the murine gene that codes for microphthalmia
transcription factor MitfA a major isoform of microphthalmia transcription
factor found in the retinal pigment epithelium MitfD a major isoform of microphthalmia transcription
factor found in the retinal pigment epithelium MitfH a major isoform of microphthalmia transcription
factor found in the retinal pigment epithelium Mkk7 mitogen-activated protein kinase 7 (also known as
MAP2K7) ML-I mucolipidosis I ML-II mucolipidosis II ML-III mucolipidosis III ML-IV mucolipidosis IV MLB multilamellar body MLCRD syndrome microcephaly-lymphedema-
chorioretinal dysplasia syndrome MLD metachromatic leukodystrophy
MLGAPC mucin-like glycoprotein associated with photoreceptor cells
MLH1 a DNA repair protein MLS mucolipidosis mm millimeter mM millimolar MMACHC the gene on chromosome 1 (1p34.1) that causes
homocystinemia and methylmalonic aciduria when mutated
MMP matrix metalloproteinase [Zn(2þ)-binding endopeptidase] and mitochondrial permeability
MMP-1 matrix metalloproteinase 1 (also known as collagenase)
MMP-2 matrix metalloproteinase 2 (also known as gelatinase, collagenase type IV, collagenase type IVA, and gelatinase A)
MMP-3 matrix metalloproteinase 3 (also known as stromelysin)
MMP-7 matrix metalloproteinase 7 MMP-9 matrix metalloproteinase 9 MMP-14 matrix metalloproteinase 14 (also known as MTI-
MMP) MMP1 the matrix metalloproteinase 1 gene on
chromosome 11 (11q22-q23) MMP2 matrix metalloproteinase 2 gene on chromosome 16
(16q13) MMP3 matrix metalloproteinase 3 gene on chromosome 11
(11q23) MMP9 matrix metalloproteinase 9 gene on chromosome 20
(20q11.2-q13.1) Mn manganese MNGIE mitochondrial neurogastointestinal
encephalopathy syndrome Mn2þ manganese ion MØ macrophages/monocytes MOCS1 the molybdenum cofactor synthesis 1 gene on
chromosome 6 (6p21.3) MOCS2 the molybdopterin synthase gene on chromosome
5 (5q11) MOMP major outer membrane protein MP macular pigment MPA microscopic polyangiitis MP17 a lens membrane protein with calmodulin binding
properties MP20 a lens plasma membrane protein MP22 a truncated product MP70 MP26 the highly conserved major intrinsic protein of the
crystalline lens (also known as aquaporin 0) MP38 a cleavage product of MP70 MP64 a lens plasma membrane protein MP70 an outer cortical lens fiber protein now known as
connexin 50 MPO myeloperoxidase MPR a mannose-6-phosphate receptor in the Golgi
membranes MPNST malignant peripheral nerve sheath tumor MPS mucopolysaccharidosis MPS I mucopolysaccharidosis type I MPS IH mucopolysaccharidosis type IH (Hurler
syndrome) MPS IS mucopolysaccharidosis type IS (Scheie syndrome)
MPS IH/S mucopolysaccharidosis type IH/S MPS II mucopolysaccharidosis type II (Hunter syndrome) MPS III mucopolysaccharidosis type III (Sanfillipo
syndrome) MPS IIIA mucopolysaccharidosis type IIIA (Sanfillipo
syndrome type A) MPS IIIB mucopolysaccharidosis type IIIB (Sanfillipo
syndrome type B) MPS IIIC mucopolysaccharidosis type IIIC (Sanfillipo
syndrome type C) MPS IIID mucopolysaccharidosis type IIID (Sanfillipo
syndrome type D) MPS IV mucopolysaccharidosis type IV (Morquio
syndrome) MPS IVA mucopolysaccharidosis type IVA (Morquio
syndrome type A) MPS IVB mucopolysaccharidosis type IVB (Morquio
syndrome type B) MPS V mucopolysaccharidosis type V (former term for
mucopolysaccharidosis type IS) MPS VI mucopolysaccharidosis type VI
(Maroteaux-Lamy syndrome) NPS VII mucopolysaccharidosis type VII (Sly syndrome) MPS VIII mucopolysaccharidosis type VIII (an entity that
is no longer recognized) MPS IX mucopolysaccharidosis type IX (Natowicz
disease) Mr molecular radius/relative molecular mass MRCS syndrome microcornea, rod-dystrophy, cataract
and posterior staphyloma syndrome MRI magnetic resonance imaging mRNA messenger ribonucleic acid MRS magnetic resonance spectroscopy MS multiple sclerosis MSA muscle specific actin MSD multiple sulfatase deficiency m/sec meters/second MSH2 aberrant mismatched repair gene MTCO1 a mitochondrial DNA cytochrome c oxidase
subunit I gene of respiratory complex IV (also known as COI)
MTCO2 a mitochondrial DNA cytochrome c oxidase subunit II gene of respiratory complex IV (also known as COII)
MTCO3 a mitochondrial DNA cytochrome c oxidase subunit III gene of respiratory complex IV (also known as COIII)
MTATP6 a gene that codes a component of the mitochondrial respiratory chain complex V
MtDNA mitochondrial DNA MTHFR 5,10-methlenetetrahydrofolate reductase MTHFR the gene for 5,10 methylenetetrahydrofolate
reductase on chromosome 1 (1p36.3) MTM1 the myotubularin gene on the X chromosome
(Xq28) MTI-MMP matrix metalloproteinase 14 (also known as
MMP14) MTND1 the subunit 1 of the mitochondrial DNA that
codes for nicotinamide adenine dinucleotide dehydrogenase (complex I of the mitochondrial respiratory chain)
MTND2 the subunit 2 of the mitochondrial DNA that codes for nicotinamide adenine dinucleotide dehydrogenase (complex I of the mitochondrial respiratory chain)
MTND3 the subunit 3 of the mitochondrial DNA that codes for nicotinamide adenine dinucleotide dehydrogenase (complex I of the mitochondrial respiratory chain)
MTND4 the subunit 4 of the mitochondrial DNA that codes for nicotinamide adenine dinucleotide dehydrogenase (complex I of the mitochondrial respiratory chain)
MTND5 the subunit 5 of the mitochondrial DNA that codes for nicotinamide adenine dinucleotide dehydrogenase (complex I of the mitochondrial respiratory chain)
MTND6 the subunit 6 of the mitochondrial DNA that codes for nicotinamide adenine dinucleotide dehydrogenase (complex I of the mitochondrial respiratory chain)
MTND7 the subunit 7 of the mitochondrial DNA that codes for nicotinamide adenine dinucleotide dehydrogenase (complex I of the mitochondrial respiratory chain)
MTTK the gene that codes mitochondrial tRNA lysine from mitochondrial nucleotides 8295-8364
MTTL1 the gene that codes mitochondrial tRNA leucine from mitochondrial nucleotides 3230-3304
MTTV the gene that codes mitochondrial tRNAvaline from mitochondrial nucleotides 1602-1670
MTTW the gene that codes mitochondrial tRNA tryptophan from mitochondrial nucleotides 5512-5576
mTOR mammalian target of rapamycin. It is a serine/ threonine protein kinase
MudPIT multidimensional protein identification technology
MuSK muscle specific kinase MVD microvascular density MW molecular weight MYC an oncogene on chromosome 8 (8q24.12-q24.13) MYOC the myocilin gene on chromosome 1 (1q21-31) MYO7A the myosin VIIa gene on chromosome 11 (11q13) MYP a locus for myopia MYP1 a locus for myopia on the X chromosome (Xq28) MYP2 a locus for myopia on chromosome 18 (18p11.31) MYP3 a locus for myopia on chromosome 12 (12q21-23) MYP4 a locus for myopia on chromosome 7 (7q36) MYP5 a locus for a myopia on chromosome 17 (17q21-23) m/z mass-to-charge ratio where m is the mass and z is the
charge) MZL marginal zone lymphoma
Naþ sodium ion NA nucleic acid NAA N-acetyl aspartic acid NAAT nucleic acid amplification test Naþ, Kþ-ATPase sodium-potassium adenosine
triphosphatase
NaCl sodium chloride NADþ nicotinamide adenine dinucleotide (oxidized form) NADH nicotinamide adenine dinucleotide (reduced form) NADPþ nicotinamide adenine dinucleotide phosphate
(oxidized form) NADPH nicotinamide adenine dinucleotide phosphate
(reduced form) NAGA the a-N-acetylgalactosaminidase gene on
chromosome 22 (22q11) NAGLU the a-N-acetylglucosaminidase gene on
chromosome 17 (17q21) NAION non-arteritic anterior ischemic optic neuropathy NAIP neuronal apoptosis inhibiting protein NARP neurogenic muscle weakness, ataxia and retinitis
pigmentosa NB84 a marker of neuroblastoma NBCCS nevoid basal cell carcinoma syndrome NB-DGJ N-butyldeoxygalactonojirimycin NC nucleocapsid N-CAM neural cell adhesion molecule NCL neuronal ceroid-lipofuscinosis ND Norrie disease nDNA nuclear DNA NDP the norrin gene on the X-chromosome (Xp11.4) NDUFS1 a nuclear gene on chromosome 2 (2q33-q34) that
codes a component of the mitochondrial respiratory chain complex I
NDUFS3 a nuclear gene on chromosome 11 (11p11.11) that codes a component of the mitochondrial respiratory chain complex I
NDUFS4 a nuclear gene on chromosome 5 (5q11.1) that codes a component of the mitochondrial respiratory chain complex I
NDUFS7 a nuclear gene on chromosome 19 (19p13) that codes a component of the mitochondrial respiratory chain complex
NDUFS8 a nuclear gene on chromosome 11 (11q13) that codes a component of the mitochondrial respiratory chain complex I
NDUFV1 a nuclear gene on chromosome 11 (11q13) that codes a component of the mitochondrial respiratory chain complex I
NDV Newcastle disease virus Nd:YAG neodymium-doped yttrium aluminum garnett
laser NEDD8 NEU1 the neuraminidase 1 gene on chromosome 6 (6p21.3) NeuroD a murine gene that is expressed in retinal
progenitor cells NF neurofilaments NF1 neurofibromatosis type 1 NF1 the gene responsible for neurofibromatosis type 1 NF2 neurofibromatosis type 2 NF2 the gene for neurofibromatosis type 2 on chromosome
22 (22q12.2) NFkB nuclear factor of kappa light chain gene enhancer in
B cells NFkB1 nuclear factor kappa-B subunit 1 NFkB2 nuclear factor kappa-B subunit 2 N-FKyn 3-hydroxykynurenine NGF nerve growth factor
NGFR nerve growth factor receptor Ngn2 a murine gene that is expressed in retinal progenitor
cells NH4OH ammonia hydroxide NHL non-Hodgkin lymphoma NHS the gene on the X-chromosome (Xp22.13) that is
responsible for Nance-Horan syndrome NICH non-involuting cogenital hemangioma NIH National Institutes of Health NK cell natural killer cell nm nanometer NMYC an oncogene on chromosome 2 (2p24.1) that
homologouswith theMYConcogene thatwas amplified in neuroblastoma cell line (also known asMYCN)
NMDA N-methyl-D-aspartate NMR nuclear magnetic resonance NO nitric oxide NOEV N-acyl beta-valienamine nop nuclear opacification (a mutant mouse) NOS1 the gene for nitric oxide synthase on chromosome 12
(12q24.2-q24.31) NPC1 a lipid trafficking protein gene on chromosome 18
(18q11-q12) NPC2 the gene on chromosome 14 (14q24.3) that is
responsible for Niemann-Pick disease type C2 NPCE nonpigmented ciliary epithelium NPD Niemann-Pick disease NP-A Niemann-Pick disease type A NP-B Niemann-Pick disease type B NP-C1 Niemann-Pick disease type C1; formerly
designated Niemann-Pick disease type D NP-C2 Niemann-Pick disease type C2 NP-D Niemann-Pick disease type D NPL non-parametric linkage NPPA the atrial natriuretic factor gene on chromosome 1
(1p36.2) NPS nail patella syndrome NR2E3 the nuclear receptor subfamily 2, group E, member
3 gene on chromosome 15 (15q23) (also known as ESCS and PNR)
NRAMP1 the natural resistance-associated macrophage protein 1 gene on chromosome 2 (2q35)
NRAMP2 the natural resistance-associated macrophage protein 2 gene on chromosome 12 (12q13)
NRL the neural retina leucine zipper gene on chromosome 14 (14q11.2) (also known as RP27)
NSAIDs non-steroidal anti-inflammatory drugs NSC nuclear sclerotic cataract NSE neuron specific enolase NTF3 neurotrophin 3 NTF4 neurotrophin 4 NTF5 neurotrophin 5 NYX the nyctalopin gene on the X chromosome (Xp11.4)
(also known as CSNB1)
3-OH Kyn N-formylkynurenine O2 oxygen radical also known as superoxide anion O4MT methylation of thymine on oxygen in 4th position O6MG methylation of guanine on oxygen in 6th position
OA ocular albinism OAT L-ornithine:2-oxoacid aminotranferase OCA oculocutaneous albinism OCA1 oculocutaneous albinism type 1 OCA1A oculocutaneous albinism type 1A OCA1B oculocutaneous albinism type IB OCA2 oculocutaneous albinism type 2 OCA2 the gene on chromosome 15 (15q11.2-q12) that
causes oculocutaneous albinism type 2 when mutated OCA3 oculocutaneous albinism type 3 OCA4 oculocutaneous albinism type 4 Ocl-2 protoncogene which inhibits apoptosis OCP ocular cicatricial pemphigoid OCRL1 a gene on the X chromosome (Xq26.1) that codes
for phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the trans Golgi network
OCSS oculocraniosomatic syndromes OCT optical coherent tomography OCZ outer collagenous zone ODFR oxygen-derived free radicals OGN the osteoglycin gene on chromosome 9 (9q21.3-q22) OH hydroxyl radical OI osteogenesis imperfecta OLM outer limiting membrane of retina; also ocular larva
migrans OMD the osteomodulin gene on chromosome 9 (9q22) Omi HTRA serine peptidase 2; also known as HTRA2 and
serine protease 25 OMIM Online Mendelian Inheritance in Man OMNTI oral melanotic neuroectodermal tumor of infancy OMP1 the gene for MOMP Omp1 a single copy gene on the C. trachamatis chromosome OPA1 optic atrophy 1 OPA4 optic atrophy 4 OPA5 optic atrophy 5 OPG osteoprotegerin (also known as death receptor 6
(DR6), tumor necrosis factor receptor superfamily member 21, osteoclastogenesis inhibitory factor, and interleukin 1-beta convertase)
OPMD oculopharyngeal muscular dystrophy OPN1LW an opsin 1 red cone pigment gene on the X
chromosome (Xq28) OPN1MW an opsin 1 green cone pigment gene on the X
chromosome (Xq27) OPTC the opticin gene on chromosome 1 (1q32.1) OPTN the optoneurin gene on chromosome 10
(10p15-p14) ORF open reading frame ORF15 open eading frame 15 ORF73 protein encoded by Kaposi sarcoma associated
herpes virus (KSHV) Otx the family of murine genes that code for orthodenticle-
related transcription factors OTX2 the gene on chromosome 14 (14q21-q22) that is the
homolog of the Drosophila orthodentide gene Otx2 a murine eye field transcription factor that is the
homolog of the Drosophila orthodentide gene OVA ovalbumin OXYS oxidation sensitive
6PGD 6-phosphogluconate dehydrogenase P platelets, probability, short arm of a chromosome P16 cyclin-dependent kinase inhibitor 2A (also known as
CDKN2A and INK4) p21 cyclin-dependent kinase inhibitor 1A (also known as
CDKN1A) p27 cyclin-dependent kinase inhibitor 1B (also known as
CDKN1B) P30/32MIC2 a cell surface antigen that reacts with
antibodies against CD99 (surface antigen MIC2) p50 nuclear factor kappa-B subunit 1 (also known as
transcription factor NFKB1) p52 repressor of the inhibitor of protein kinase 52-KDa P53 the protein product of the TP53 gene on chromosome
17 (17p13.1) P63 the protein product of the TP73L gene on chromosome
3 (3q27) P65 Golgi peripheral membrane protein P65 (also known
as Golgi reassembly stacking protein 1) PA polyarteritis nodosa PABN1 polyadenylate-binding nuclear protein 1 PABN1 polyadenylate-binding nuclear protein 1 gene PACAP pituitary adenylate cyclase-activating protein PACG primary angle closure glaucoma PAF platelet activating factor PADGEM platelet activation-dependent granule external
membrane protein PAGE polyacrylamide gel electrophoresis PAM primary acquired melanosis PAMP pathogen-associated molecular pattern pANCA perinuclear staining anti-neutrophil cytoplasmic
antibody PAP1 the PIM1-kinase associated protein 1 gene on
chromosome 7 (7p14.3) (also known as PIM1 and RP9) PARK1 the a-SYN gene on chromosome 4 (4q21) PARK2 the ubiquitin E3 ligase gene on chromosome 6
(6q25.2-q27) PARK3 the ubiquitin C-terminal hydrolase L1 gene on
chromosome 2 (2p13) PARP poly (ADP-ribose) polymerase PAS periodic acid Schiff PAX2 the paired box gene 2 on chromosome 10 (10q24) Pax2 the murine gene for paired box-2 PAX6 the gene for paired box-6 on chromosome 11 (11p13) Pax6 the murine gene for paired box-6 PC phosphatidylcholine PCDH15 the protocadherin-15 gene on chromosome 10
(10q21) PCF pharyngeal conjunctival fever PCG primary congenital glaucoma PCR polymerase chain reaction PCTH1 a gene on chromosome 9 (9q22.3)that codes for a
transmembrane protein that suppresses TGFb and Wnt families of signally proteins
PD polyol dehydrogenase, pseudoefficiency and Parkinson disease
PDCD1 the programmed cell death 1 gene on chromosome 2 (2q37.3)
PDE phosphodiesterase
PDE6A the rod cyclic guanosine monophosphate phosphodiesterase alpha subunit gene on chromosome 5 (5q33.1)
PDE6B the rod cyclic guanosine monophosphate phosphodiesterase beta subunit gene on chromosome 4 (4p16.3) (also known as CSNB3)
PDGF platelet derived growth factor PDHA1 a gene on the X chromosome (Xp22.2-p22.1) that
codes for a component of the pyruvate dehydrogenase complex
PDR proliferative diabetic retinopathy PDS pigment dispersion syndrome PDZ domain a structural domain of 80-90 amino acids that
is found in certain signaling proteins PE phosphatidylethanolamine PEDF pigment epithelium-derived growth factor PET positron emission tomography PEX pseudoexfoliation syndrome PEX1 the peroxisome biogenesis factor 1 (peroxin-1) gene
on chromosome 7 (7q21-q22) PEX10 the peroxisome biogenesis factor 10 (peroxin-10)
gene on chromosome 1 (1p36.32) PEX13 the peroxisome biogenesis factor 13 (peroxin-13)
gene on chromosome 2 (2p15) PEX26 the peroxisome biogenesis factor 26 (peroxin-26)
gene on chromosome 22 (22q11.21) PF-4 platelet factor 4 PFKM the muscle phosphofructokinase gene on
chromosome 12(12q13.3) PFV persistent fetal vasculature PG proteoglycan; prostaglandin, pigmentary glaucoma PGAM2 the muscle phosphoglycerate mutase gene on
chromosome 7 (7p13-p12.3) PGD2 prostaglandin D2 PGE2 prostaglandin E2 PGF placenta growth factor PGF2 prostaglandin F2 PGG2 prostaglandin G2 PGH2 prostaglandin H2 PGI2 prostacyclin PGP 9.5 ubiquitin carboxyl-terminal esterase L1 pH a measure of the of the acidity of a solution in terms of
the hydrogen ions PHA phytohemaglutinin Phako phacoemulsification PHKA1 the muscle isoform of the a-subunit of
phosphorylase kinase gene on the X chromosome (Xq13)
PHKA2 the a-subunit of phosphorylase kinase gene on the X chromosome (Xp22.2-p22.1)
PHKB the b-subunit of liver and muscle phosphorylase kinase gene on chromosome 16 (16q12-q13)
PHKG2 the gene on the chromosome 16 (16q11-p12) that codes for the testis/liver isoform of the g-subunit of phosphorylase kinase
PHLDA1 the gene on chromosome 12 (12q15) for pleckstrin homology-like domain Family A member 1 (also known as T cell death-associated gene 51)
PHPV persistent hyperplastic primary vitreous Pi inorganic phosphate PI phosphatidylinositol
pI isoelectric point PI3K phosphoinositide-3 kinase PIK3R3 phosphatidylinositol 3 kinase PIM1 the PIM1-kinase associated protein 1 gene on
chromosome 7 (7p14.3) (also known as PAP1 and RP9) PIP proximal interphalangeal PIP2 phosphatidylinositol 4, 5-bisphosphate PIP5K3 the phosphatiditylinositol-3-phosphate 5 kinase
type III gene on chromosome 2 (2q35) PITC phenylisothiocyanate PITX2 the paired-like homeodomain transcription factor 2 PITX2 the paired-like homeodomain transcription factor 2
gene on chromosome 4 (4q25-q26) Pitx2 the murine paired-like homeodomain transcription
factor 2 gene PITX3 the paired-like homeodomain transcription factor 3 PITX3 the paired-like homeodomain transcription factor 3
gene on chromosome 10 (10q25) PLOD the lysyl hydroxylase gene on chromosome 1
(1p36.3-36.2) PLP1 the main integral protein of myelin (proteolipid
protein 1) gene on the X chromosome (Xq22) PLXND1 the plexin D1 gene on chromosome 3 (3q21.3) PM plasma membrane PMMA polymethylmethacrylate PML progressive multifocal leukoencephalopathy PMN polymorphonuclear leukocyte/polymorphonuclear
neutrophils PMR polymyalgia rheumatica PN polyarteritis nodosa PNET primitive neuroectodermal tumor PNR photoreceptor cell-specific nuclear receptor PNR a gene on chromosome 15 (15q23) that codes for
nuclear receptor subfamily 2, group E, member 3 (also known as NR2E3 and ESCS)
PNS peripheral nervous system POAG primary open angle glaucoma Pol a gene of Rous sarcoma virus POLA Pathologies Ocularies Liees a l’Age POMGnT1 protein O-linked mannose beta 1,2-N-
acetylglucosaminyltransferase 1 POMT1 the protein O-mannosyltransferase gene on
chromosome 9 (9q34.1) PORN progressive outer retinal necrosis POU the gene for POU proteins (a family of proteins that
are transcription factors with a bipartite DNA binding domain (POU domain); named after three mammalian transripton factors (Pit-1, Oct-1/Oct-2, and Unc-86)
PPAR peroxisome proliferator-activated receptor PPCD posterior polymorphous corneal dystrophy PPCRA pigmented paravenous chorioretinal atrophy PPD purified protein derivative of tuberculin PPGB the cathepsin protective protein gene on
chromosome 20 (20q13.1) PPP pentose phosphate pathway PPP2CA the protein phosphatase 2A gene on chromosome
5 (5q23-q31) PPRPE recessive retinitis pigmentosa with para-arteriolar
preservation of the retinal pigment epithelium PPT1 palmitoyl-protein thioesterase 1
PRAD1 parathyroid adenomatosis 1 ( also known as cyclin D1 and BCL-1)
pRb retinoblastoma gene product PRELP a small interstitial proteoglycan with proline
arginine-rich end leucine rich repeats PRELP the gene on chromosome 1 (1q32) that codes for the
proteoglycans known as PRELP pre-mRNA precursor messenger mRNA PRG1 the serglycin gene on chromosome 10 (10q22.1) PRKAR1A the protein kinase cAMP-dependent regulatory
type 1 alpha gene on chromosome 17 (17q23-q24) PRL the prolactin gene on chromosome 6 (6p22.2-p21.3) PRNP the gene for prions on chromosome 20 (20pter-p12) PROMM proximal myotonic myopathy ProMMP-2 promatrix metalloproteinase-2 Prox1 the prospero-related homeobox 1 murine gene that
codes for a transcription factor that is involved in the regulation of crystalline lens induction and development
PrP the normal cellular isoform of prion protein PrPc wildtype prion protein PRPF3 a gene for human homolog of yeast pre-mRNA
splicing factor 3 on chromosome 1 (1q21.2) (also known as RP18)
PRPF8 a gene for the human homolog of yeast pre-mRNA splicing factor C8 on chromosome 17 (17p13.3) (also known as RP13)
PRPF31 a gene for human homolog of yeast pre-mRNA splicing factor 31 on chromosome 19 (19q13.42) (also known as RP11)
PRPH2 the peripherin 2 gene on chromosome 6 (6p21.1-cen) (also known as RDS and RP7)
PrPsc mutated prion protein (also known as PrPSC) PrPSC mutated prion protein (also known as PrPSC) PrPSc the abnormal disease-causing isoform of prion
protein PRR pattern recognition receptor PSAP the saposin sulfatide activator gene on chromosome
10 (10q22.1) PSC posterior subcapsular cataract PSEN1 the presenilin-1 gene on chromosome 14 (14q) PSEN2 the presenilin-2 gene on chromosome 1 (1q31-q42) PSH proteinthiol pSS primary Sjo¨gren syndrome PSH protein thiol PTC phenylthiocarbamoyl PTCH the human homolog of the Drosophila patch gene on
chromosome 22 (23-q31) PtdSer phosphatidylserine PTEN a phosphatase and tensin homolog gene on
chromosome 10 (10q23.31) that is mutated in Cowden syndrome
PTH phenylthiohydantoin; parathyroid hormone PTLD post-transplant lymphoproliferative disease PTMs post-translational modifications PTP permeability transition pore PTPN22 protein tyrosine phosphatase non-receptor 22 PTPRC protein kinase phosphatase receptor type C gene
on chromosome 1(1q31-q32) PU phacoantigenic uveitis PUFA polyunsaturated fatty acid
PUK peripheral ulcerative keratitits PVD posterior vitreous detachment pVHLD the von Hippel-Lindau disease protein PVR proliferative vitreoretinopathy PYGL the liver phosphorylase gene on chromosome 14
(14q21-q22) PYGM the muscle phosphorylase gene on chromosome 11
(11q13) 31P-NMR phosphorous 31-nuclear magnetic resonance
q long arm of a chromosome QTL quantitative trait locus
R rad RA rheumatoid arthritis Rab a family of small guanosine triphosphate (GTP)-
binding proteins within the Ras superfamily that regulates vescicular trafficking pathways
RAB3A a protein that regulates synaptic vesicle exocytosis RAB8A a Ras-associated protein RAD51 a gene on chromosome 15 (15q15.1) that codes a
homolog of S. cerevisiae RAD51 RAG1 recombination activating gene 1 on chromosome 11
(11p13) RAG2 recombination activating gene 2 on chromosome 11
(11p13) RANTES a cytokine (Regulated on Activation, Normal T
Expressed and Secreted) RAR retinoic acid receptor RARE retinoic acid-response element Ras retrovirus-associated DNA sequences originally
isolated from murine sarcoma virus; the Ras superfamily of small guanosine triphosphate (GTP)- binding proteins regulates vescicular trafficking pathways and includes the Rab family
86Rb rubidium 86 Rb retinoblastoma RB reticulate body RB1 the retinoblastoma gene on chromosome 13 (13q14) RBC red blood cell RBP retinol binding protein RBP1 retinol-binding protein 1 (also known as cellular
retinol-binding protein [CRBP]) RCP the gene for red visual pigment on the X chromosome
(Xq28) RCS Royal College of Surgeons RD retinal detachment RDH1 the 11-cis retinol dehydrogenase 5 gene on
chromosome 12 (12q13-q14) (also known as RDH5) RDH5 retinol dehydrogenase 5 RDH5 the 11-cis retinol dehydrogenase 5 gene on
chromosome 12 (12q13-q14) (also known as RDH1) RDH12 retinol dehydrogenase 12 RDH12 the retinol dehydrogenase 12 gene on chromosome
14 (14q24.1) rDNA ribosomal deoxyribonucleic acid RDS the peripherin 2 gene on chromosome 6 (6p21.1-cen)
(also known as PRPH2 and RP7)
RDH5 the 11-cis retinol dehydrogenase 5 gene on chromosome 12 (12q13-q14) (also known as RDH1)
REAL classification Revised European American Lymphoma Classification
RECQL2 the recq protein-like 2 gene on chromosome 8 (8p12-p11.2)
RELA the A homolog of V-REL avian reticuloendotheliosis viral oncogene on chromosome 11 (11q12-q13)
RELB the B homolog of V-REL avian reticuloendotheliosis viral oncogene on chromosome 19 (19q13.32)
REP-1 Rab excort protein 1 REP-2 Rab excort protein 2 RER rough endoplasmic reticulum RET the rearranged during transfection proto-oncogene on
chromosome 10 (10q11.2) RetGC1 retinal guanylate cyclase-1 (also known as
GUCY2D) RETGC1 the retinal-specific guanylate cyclase gene on
chromosome 17 (17p13.1) (also known as CORD6, GUCY2D, and LCA1)
RF rheumatoid factor RGC reinal ganglion cell RGD an integrin-binding motif (ArgGlyAsp) RGR retinal pigment epithelium-retinal G-protein coupled
receptor RGR the retinal pigment epithelium-retinal G-protein
Coupled receptor gene on chromosome 10 (10q23.1) Rho a family of small guanosine triphosphate (GTP)
binding proteins RHO the rhodopsin gene on chromosome 3 (3q21-q24)
(also known as RP4) RHOK the rhodopsin kinase gene on chromosome 13
(13q34) (also known as GRK1) RICH rapidly involuting congenital hemangioma RIM a protein involved in the regulation of glutamate
release at the ribbon synapse of photoreceptors RIMS1 protein regulating synaptic membrane exocytosis 1
gene on chromosome 6 (6q12-q13) RK radial keratotomy RLBP1 the cellular retinaldehyde-binding protein gene on
chromosome 15 (15q26) (also known as CRALBP) RNFLI retinal nerve fiber layer infarct (also known as
“cotton wool” spot) Ro Sjo¨gren syndrome related antigen ROBO3 a gene on chromosome 11 (11q23-q25) that codes a
homolog of Drosophila roundabout 3 ROI reactive oxygen intermediates ROM1 the rod outer segment protein 1 gene on
chromosome 11 (11q13) ROP retinopathy of prematurity ROS reactive oxygen species RP retinitis pigmentosa, refractive power, and relapsing
polychondritis RP1 the oxygen-regulated photoceptor protein 1 gene on
chromosome 8(8q12.1) RP3 the gene on the X chromosome (Xp11.4) for retinitis
pigmentosa guanosine triphosphate hydrolase regulator (also known as RPGR, CORDX and COD1)
RP4 the rhodopsin gene on chromosome 3 (3q21-q24) (also known as RHO)
RP7 the peripherin 2 gene on chromosome 6 (6p21.1-cen) (also known as RDS and PRPH2)
RP9 the PIM1-kinase associated protein 1 gene on chromosome 7 (7p14.3) (also known as PAP1 and PIM1)
RP10 the inosine monophosphate dehydrogenase 1 gene on chromosome 7 (7q32.1) (also known as IMPDH1)
RP11 a gene on chromosome 19 (19q13.42) that codes for human homolog of yeast pre-mRNA splicing factor 31 (also known as PRPF31)
RP12 a gene on chromosome 1 (1q31-q32.1) that codes for a homolog of Drosophila Crumbs 1 (also known as CRB1)
RP13 a gene on chromosome 17 (17p13.3) that codes for human homolog of yeast pre-mRNA splicing factor C8 (also known as PRPF8)
RP14 the tubby-like protein 1 gene on chromosome 6 (6p21.3) (also known as TULP1)
RP17 the gene for carbonic anhydrase IV on chromosome 17 (17q23.2) (also known as CA4)
RP18 a gene on chromosome 1 (1q21.2) that codes for human homolog of yeast pre-mRNA splicing factor 3 (also known as PRPF3)
RP19 the ATP-binding cassette transporter retinal gene on chromosome 1 (1p21-p13) (also known as ABCA4, ABCR, and STGD1)
RP20 a gene on chromosome 1 (1p31) that codes for retinal pigment epithelium-specific 65 kDa protein (also known as RPE65 and LCA2)
RP22 a locus for retinitis pigmentosa on chromosome 16 (16p12.3-p12.1)
RP25 a locus for retinitis pigmentosa on chromosome 6 (6cen-q15)
RP26 the gene for ceramide kinase-like protein on chromosome 2 (2q31.3) (also known as CERKL)
RP27 a gene on chromosome 14 (14q11.2) that codes for neural retina leucine zipper (also known as NRL)
RP28 a locus for retinitis pigmentosa on chromosome 2 (2p16-p11)
RP29 a locus for retinitis pigmentosa on chromosome 4 (4q32-q34)
RP30 the gene on chromosome 17 (17q25) that codes for retinal fascin homolog 2 actin bindig protein (also known as FSCN2)
RP31 a locus for retinitis pigmentosa on chromosome 9 (9p22-p13)
RP32 a locus for retinitis pigmentosa on chromosome 1 (1p34.3-p13.3)
RPE retinal pigment epithelium RPE65 retinal pigment epithelium-specific 65 kDa protein RPE65 a gene on chromosome 1 (1p31) that codes for
retinal pigment epithelium-specific 65 kDa protein (also known as LCA2 and RP20)
RPED retinal pigment epithelium detachment RPGR the gene on the X chromosome (Xp11.4) for retinitis
pigmentosa guanosine triphosphate hydrolase regulator (also known as RP3, CORDX and COD1)
RPGR-ORF15 a highly repetitive purine-region in the open reading frame 15 of the RRGR gene
RPGRIP1 the RPGR-interating protein 1 gene on chromosome 14 (14q11.2) (also known as LCA6)
RRD rhegmatogenous retinal detachment RS Reiter syndrome RS1 the retinoschism gene on the X chromosome
(Xp22.2-p22.1) RSV Rous sarcoma virus RT-PCR reverse transcription-polymerase chain reaction RVFV rift valley fever virus RX the retina and anterior neural fold homeobox gene on
chromosome 18 (18q21.3) (also known as RAX) Rx1 a murine eye field transcription factor RYR1 the ryanodine receptor 1 gene on chromosome 19
(19q13.1)
35S sulfur isotope 35 S sulfur and the phase of synthesis in the cell cycle S-antigen arrestin S100 a calcium binding protein SAA serum amyloid protein A SAA1 the serum amyloid A1 gene on chromosome 11
(11p15.1) SAA1 serum amyloid A1 SAA2 the serum amyloid A2 gene on chromosome 11
(11p15.1) SAA2 serum amyloid A2 SAA3 the serum amyloid A3 gene on chromosome 11
(11p15.1-p14)) SAA3 serum amyloid A3 SAA4 the serum amyloid A4 gene on chromosome 11
(11p15.1) SAA4 serum amyloid A4 SAAL an acute phase reactant protein; a precursor of SAA SAC seasonal allergic conjunctivitis SAG the arrestin gene on chromosome 2 (2q37.1) SAGE serial analysis of gene expression SALT skin associated lymphoid tissue SAM senescence accelerated mouse; also sterile alpha
motif SANS the sans gene on chromosome 17 (17q24) SAP serum amyloid protein SAP-A saposin A SAP-B saposin B SAP-C saposin C SAP-D saposin D SAPK stress-activated protein kinase SARA2 a gene on chromosome 5 (5q31.10 that causes
chylomicron retention disease when mutated SAT1 the spermidine/spermine N(1)-acetyltransferase-1
gene on the X chromosome (Xp22.1) SBF2 a gene on chromosome 17 (17q11.2) that causes
Charcot-Marie Tooth disease type 4 when mutated SCC squamous cell carcinoma S cone blue cone SCD Schnyder corneal dystrophy SCID severe combined immune deficiency sCJD sporadic Creutzfelt-Jakob disease SC02 a nuclear gene on chromosome 22 (22q13) that codes
for a component of the mitochondrial respiratory chain complex IV
SDC1 the syndecan 1 gene on chromosome 2 (2p24.1)
SDC2 the syndecan 2 gene on chromosome 8 (8q22-q24) SDC3 the syndecan 3 gene on chromosome 1 (1p32) SDC4 the syndecan 4 gene on chromosome 20 (20q12-q13) SDF-1 stromal cell-derived factor 1 (also known as
chemokine CXC motif ligand 12) SDHA a gene on chromosome 5 (5p15) that codes a
component of the mitochondrial respiratory chain complex II
SDS sodium dodecyl sulfate SDS-PAGE sodium dodecyl sulfate-polyacrylamide gel
electrophoresis Se selenium sec second SED spondyloepiphyseal dysplasia with dwarfism SEER Surveillance, Epidemiology, and End Results SEGA subependymal giant cell astrocytoma SELDI-TOF surface-enhanced laser desorption ionization
time-of flight SEM scanning electron microscopy and standard error of
the mean SEMA4A semaphorin 4A (also known as SEMAB) SEMA4A the semaphorin 4A gene on chromosome 1 (1q22)
(also known as SEMAB) SEMAB the semaphorin 4A gene on chromosome 1 (1q22)
(also known as SEMA4A) SEN subependymal nodules SEPN1 the selenoprotein N gene on chromosome 1
(1p36-p35) Ser serine SFAs semifluorinated alkanes SFD Sorsby fundus dystrophy SGSH the heparan N-sulfatase gene on chromosome 17
(17q25.3) SH sulfhydryl group SH3BP2 SH3 domain-binding protein 2 SHH the sonic hedgehog gene on chromosome 7 (7q36) Shh the murine sonic hedgehog gene sHSPs small heat shock proteins SIAT9 the sialyltransferase-9 gene on chromosome 2
(2p11.2) sICAM-1 soluble form of ICAM-1 SIgA sectory component of immunoglobulin A sIL-2r soluble interleukin 2 receptor SILAC stable isotope labelling with amino acids in cell
culture Sip1 a murine gene that codes a transcription factor that is
involved in crystalline lens induction and develpment Six3 a murine eye field transcription factor that is the
homolog of the Drosophila sine oculis homeobox 3 gene
SIX5 the gene for sine oculis-5 on chromosome 19 (19q13.3) SIX6 a gene on chromosome 14 (14q23) that is the homolog
of the Drosophila sine oculis homeobox 6 gene Six6 a murine eye field transcription factor that is the
homolog of the Drosophila sine oculis homeobox 6 gene
SJS Stevens Johnson syndrome Ski a murine proto-oncogene SLC4A11 the sodium borate cotransporter gene on
chromosome 20 (20p13-p12)
SLC39A4 a gene on chromosome 8 (8q24.3) that controls zinc absorption from the intestine
SLC40A1 a gene on chromosome 2 (2q32) that causes hemochromatosis when mutated
SLC1745 a gene on chromosome 6 (6q14-q15)that codes for a transporter of sialic acid into the lysosome
SLE systemic lupus erythematosus SLEB2 a locus for systemic lupus erythematosus
susceptibility on chromosome 2 (2q37) SLIPS syndecan-like integral membrane proteoglycans SLL small lymphocytic lymphoma SLRR a superfamily of small proteoglycans containing
tandem arrays of leucine-rich repeats SLS segment long spacing Smac/SMAC second mitochondria-derived activator of
caspases SMADs a group of related intracellular proteins critical for
transmitting to the nucleus signals from TGFb SMPD1 a sphingomyelinase gene on chromosome 11
(11p15.4-p15.1) SNAILs a family of zinc finger transcription factors first
identified in Drosophila SNAP-25 a protein involved in the regulation of
acetylcholine release SNP single nucleotide polymorphism SO sympathetic ophthalmia SOC53 suppressor of cytokine signaling SOD superoxide dismutase SOD2 the manganese superoxide dismutase gene on
chromosome 6 (6q25.3) SOX1 the Sry-box 1 gene on chromosome 13 (13q34) Sox1 the murine Sry-box 1 gene SOX2 the Sry-box 2 gene on chromosome 3 (3q26.3-q27) Sox2 the murine Sry-box 2 gene SOX3 the Sry-box 3 gene on the X chromosome 3 (Xq26.3) Sox3 the murine Sry-box 3 gene SOX9 SRY-Box 9 the product of the SRY-related HMG-box
gene 9 sp. species SPARC secreted protein, acidic, cysteine-rich (also known
as osteonectin) SPK superficial punctate keratitis SRBC sheep red blood cell Src a gene in Rous sarcoma virus SRP signal recognition particle SRS-A slow reacting substance of anaphylaxis (currently
known as leukotreine C4) SRT substrate reduction therapy SS Sjo¨gren syndrome SS-A an antigen to Sjo¨gren syndrome SS-B an antigen to Sjo¨gren syndrome SSc systemic sclerosis SSCP single-stranded conformational polymorphism ssDNA single standed deoxyribonucleic acid SSH suppression subtraction hybridization SSPE subacute sclerosing panencephalitis ssRNA-RT single standed ribonucleic acid-reverse
transcriptase sSS secondary Sjo¨gren syndrome ST sulfotransferase STGD Stargardt disease
STGD1 Stargardt disease type 1 STGD1 the ATP-binding cassette transporter retinal gene
on chromosome 1 (1p21-p13) (also known as RP19, ABCA4, and ABCR)
STGD2 Stargardt disease type 3 STGD3 Stargardt disease type 3 STS serologic test for syphilis STS a gene for steroid sulfatase on the X chromosome
(Xp22.32) SUMF1 the gene on the chromosome 3 (3p26) that codes for
a sulfatase that acts on all substates SUOX the sulfite oxidase gene on chromosome 12 SubRPE subretinal pigment epithelium SURF1 a nuclear gene on chromosome 9 (9q34) that codes a
component of the mitochondrial respiratory chain complex IV
SV systemic vasculidides SV40 simian virus 40 SWS Sturge-Weber syndrome SYPROTM a registered tradename of Molecular Probes
T thymine T1-weighted image a magnetic resonance image using
short TE and TR times; it has greater signal intensity from fat containing tissues
T2-weighted image a magnetic resonance image made with a sequence with long TR and TE to show contrast in tissues with varying T2 relaxation times; water gives a strong signal
T3 triiodothyronine T4 thyroxine TA Takayasu arteritis TACSTD2 the current name for the gene on chromosome 1
(1p32) that was formerly called M1S1, TROP2, and GA733-1
TALL1 tumor necrosis factor and Apo1-related leukocyteexpressed ligand 1 (also known as tumor necrosis factor ligand, member 13B [TNFSF13B] and B cell activating factor, and zTNF4)
TAP transporter associated with antigen processing TAT the tyrosine aminotransferase gene on chromosome 16
(16q22.1-q22.3) TATA thymine-adenine-thymine-adenine TBA thiobarbituric acid TBD Thiel-Behnke corneal dystrophy tBid truncated Bid Tc phase separation temperature Tc cytotoxic T-cell TCA tricarboxylic acid cycle (also known as Krebs cycle
and citric acid cycle) T cell T lymphocyte TCF8 a transcription factor 8 gene on chromosome 10
(10p11.2) TCR T-cell receptor TCR Vb variable region of the T-cell receptor b chain TdT terminal deoxynucleotidyl transferase TDT transmission disequilibrium test TEK gene encoding endothelial cell-specific tyrosine
kinase receptor TEM transmission electron microscopy
TEN toxic epidermal necrolysis TEWL transepithelial water loss TFR2 a gene on chromosome 7 (7q22) that causes
hemochromatosis when mutated TG thymine-guanine dinucleotide TGase transglutaminase TG2 tissue transglutaminase TG3 epidermal transglutaminase TGF transforming growth factor TGFa transforming growth factor a TGFb transforming growth factor b TGFB the transforming growth factor b1 gene on
chromosome 19 (19q13.1), also known as TGFB1 TGFb1 transforming growth factor b1 TGFB1 the transforming growth factor b1 gene on
chromosome 19 (19q13.1) TGFb2 transforming growth factor b2 TGFBI the transforming growth factor beta induced gene
on chromosome 5 (5q31) TGFBIp transforming growth factor beta induced protein TGFBR2 the TGFb receptor 2 gene on chromosome 3 (3p22) TGIF the transforming growth factor beta-induced factor
gene on chromosome 18 (18p11.3) TGM2 the transglutaminase-2 gene on chromosome 20
(20q11.2-q12) Th helper T cell Th0 precursors of other helper T cells Th1 helper T cell type 1 that is involved in cell-mediated
immunity (also known as Th1-cell) Th2 helper T cell type 2 that stimulates antibody
production by B-cells (also known as Th2-cell) Thr threonine Thy-1 a major cell surface protein of T lymphocytes TIGR an former term for theMYOC gene on chromosome 1
(1q21-31) that codes for myocilin TIL tumor infiltrating lymphocytes TIMP tissue inhibitor of metalloproteinase TIMP1 the tissue inhibitor of metalloproteinase 1 gene on
the X chromosome (Xp11.3-p11.23) TIMP2 the tissue inhibitor of metalloproteinase 2 gene on
chromosome 17 (17q25) TIMP3 the tissue inhibitor of metalloproteinase 3 gene on
chromosome 22 (22q12.1-q13.2) TIMP1 tissue inhibitor of metalloproteinase 1 TIMP2 tissue inhibitor of metalloproteinase 2 TIMP3 tissue inhibitor of metalloproteinase 3 tk thymine kinase TKT transketolase Tll the murine paired box-6 gene TLR Toll-like receptor TM trabecular meshwork TMS triple-membrane structure TNC the tenascin C gene on chromosome 9 (9q33) TNF tumor necrosis factor TNF the tumor necrosis factor gene on chromosome 6
(6p21.3) TNFa tumor necrosis factor a TNFb tumor necrosis factor b TNR the tenascin R gene on chromosome 1 (1q24) TNFR tumor necrosis factor receptor
TNFR1 tumor necrosis factor receptor 1 (also known as tumor necrosis factor receptor superfamily member 1A, death receptor 1 and CD120a)
TNFR2 tumor necrosis factor receptor 2 (also known as CD120b)
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necross factor receptor superfamily, member 1B
TNFRSF12 tumor necrosis factor receptor superfamily member 12 (also known as death receptor 3 [DR3], lymphocyte-associated receptor of death [LARD], TRAMP, and WSL1)
TNFR25 tumor necrosis factor receptor 1 TNFSF13B tumor necrosis factor ligand, member 13B (also
known as B cell activating factor, TALL1 and zTNF4) TNM tumor-nodes-metastases TP53 the tumor protein p53 gene on chromosome 17
(17p13.1) TP73L the gene on chromosome 3 (3q27) that codes for
tumor protein p73-like (also known as tumor protein p63)
TPA 12-O-tetradecanoylphobol-13-acetate TPO thyroid peroxidase TRADD tumor necrosis factor receptor associated death
domain TRAF1 tumor necrosis factor receptor associated
factor 1 TRAR2 tumor necrosis factor receptor associated factor 2 TRAIL tumor necrosis factor-related apoptosis inducing
ligand (also known as APO2L) TRAIL3 tumor necrosis factor-related apoptosis inducing
ligand 3 (also known as DCR1) TRAIL4 tumor necrosis factor-related apoptosis inducing
ligand 4 (also known as DCR2) TRAILR1 Tumor necrosis factor (TNF)-related apoptosis-
inducing ligand receptor 1 (also known as death receptor 4 [DR4] and APO2)
TRAILR2 Tumor necrosis factor (TNF)-related apoptosisinducing ligand receptor 2 (also known as death receptor 5 [DR5], KILLER and TRICK2)
TRAILR3 Tumor necrosis factor (TNF)-related apoptosisinducing ligand receptor 3 (also known as death receptor 3 [DR3], tumor nerosis factor receptor superfamily member 10C [TNFRSF10C], decoy receptor 1 [DCR1] and TRAIL receptor without an intracellular domain [TRID])
TRAILR4 Tumor necrosis factor (TNF)-related apoptosisinducing ligand receptor 4
TRAP150 the thyroid hormone receptor associated protein 3 gene on chromosome 1 (1p34.3)
TRB trilateral retinobastoma Treg regulatory T-cells TRH thyrotropin releasing hormone TRIC trachoma and inclusion conjunctivitis TRICK 2 death receptor 5 (DR5) also known as tumor
necrosis factor-related apoptosis-inducing ligand receptor 2 [TRAIL2] and KILLER)
TRKA tyrosine kinase receptor A TRKB tyrosine kinase receptor B TRKC tyrosine kinase receptor C
TROP2 a former name for the TACSTD2 gene on chromosome 1 (1p32-p31)
TRP1 a tyrosinase-related protein enzyme that catalyzes DHICA polymerization
TRP1 the tyrosinase-related protein 1 gene on chromosome 9 (9q23)
TRYP-1 enzyme that catalyzes the polymerization of 5,6dihydroxyindole-2-carboxylic acid
tRNA transfer RNA Ts suppressor T-cell TSC tuberous sclerosis complex TSC1 a gene for tuberous sclerosis complex on
chromosome 9 (9q34) TSC2 a gene for tuberous sclerosis complex on
chromosome 16 (16p13.3) TSD Tay-Sachs disease TSH thyroid stimulating hormone TSTA tumor-specific transplantation antigens TTF-1 thyroid transcription factor 1 TTP1 tripeptidyl peptidase 1 TTP1 the tripeptidyl peptidase 1 gene on chromosome 8
(8q13.1-q13.3) TTR the transthyretin gene on chromosome 18
(18q11.2-q12.1) TTT transpupillary thermotherapy Try a murine gene involved in melanin production TUCAN tumor-up-regulated caspase recruitment domain
(CARD)-containing antagonist TULP1 Tubby-like protein 1 TULP1 the tubby-like protein 1 gene on chromosome 6
(6p21.3) (also known as RP14) TUNEL terminal deoxynucleotidyl transferase (TdT)
mediated 2’-deoxyuridine 5’-triphosphate (dUTP) nick-end labelling
Tyr tyrosine TYR the tyrosinase gene on chromosome 11 (11q14-21) Tyrp1 a murine gene involved in melanin production TWIST a transcription factor TXA2 thromboxane A2
U uracil UBE2A the ubiquitin conjugating enzyme E2A gene on the
X chromosome (Xq24-q25) UBE2B the ubiquitin conjugating enzyme E2B gene on
chromosome 5 (5q23-q31) UBIAD1 a gene on chromosome 1 (1p34-1p36) that
encodes a potential prenyltransferase UDP uridine diphosphate UGH uveitis-glaucoma-hyphema U.K. United Kingdom UNC119 the retinal gene 4 on chromosome 17 (17q11.2) UNICEF Unted Nations International Children’s
Emergency Fund UP ubiquinated proteins UPS ubiquitin-proteasome system US$ US dollars U.S. United States USH syndrome Usher syndrome
USH1 a type of Usher syndrome that has been mapped to chromosome 14 (14q32)
USH1B a type of Usher syndrome due to a mutation in the MYO7A gene
USH1C a type of Usher syndrome due to a mutation in the USH1C gene
USH1C the harmonin gene on chromosome 11 (11p15) USH1D a type of Usher syndrome due to a mutation in the
CDH23 gene USH1E a type of Usher syndrome that has been mapped to
chromosome 21 (21q21) USH1F a type of Usher syndrome due to a mutation in the
PCDH15 gene USH1G a type of Usher syndrome due to a mutation in the
SANS gene USH2 a type of Usher syndrome USH2A a type of Usher syndrome due to a mutation in the
USH2A gene USH2A the usherin gene on chromosome 1 (1q41) USH2B a type of Usher syndrome that has been mapped to
chromosome 3 (3p24) USH2C a type of Usher syndrome due to a mutation in the
VLGR1 gene USH3 a type of Usher syndrome USH3A a type of Usher syndrome due to a mutation in the
USH3A gene USH3A a clarin-1 gene on chromosome 3 (3q21-25) USP6 ubiquitin-specific protease 6 USP6 the ubiquitin-specific protease 6 gene on
chromosome 17 (17p13) UV ultraviolet UVA ultraviolet A (100-290 nm) UVA1 ultraviolet A1 (340-400 nm) UVA2 ultraviolet A2 (320-340 nm) UVB ultraviolet B (290-320 nm)
ve negative þve positive VDAC voltage-dependent anion channel Val valine Vax1 a murine ventral anterior homeobox gene Vax2 a murine ventral anterior homeobox gene VCAM-1 vascular cell adhesion molecule-1 vCJD variant Creutzfeldt-Jakob disease VDAC voltage dependent anion channel (also known as
porin) VDR the vitamin D receptor gene on chromosome 12
(12q-q14) VEGF vascular endothelial growth factor VEGF120 an isoform of vascular endothelial growth factor
with 120 amino acids VEGF145 a human isoform of vascular endothelial growth
factor with 145 amino acids VEGF165 a human isoform of vascular endothelial growth
factor with 165 amino acids VEGF164 a murine isoform of vascular endothelial growth
factor with 165 amino acids
VEGF188 a murine isoform of vascular endothelial growth factor with 189 amino acids
VEGF189 a human isoform of vascular endothelial growth factor with 189 amino acids
VEGF206 a human isoform of vascular endothelial growth factor with 206 amino acids
VEGF-A vascular endothelial growth factor A VEGF-B vascular endothelial growth factor B VEGF-C vascular endothelial growth factor C VEGF-D vascular endothelial growth factor D VEGF-E vascular endothelial growth factor E VEGFR1 vascular endothelial growth factor receptor 1 VEGFR2 vascular endothelial growth factor receptor 2 VEGFR3 vascular endothelial growth factor receptor 3 VEP visual evoked potential VER visual evoked response VHL von Hippel-Lindau protein VHL the gene on chromosome 3 (3p25-26) that causes von
Hippel-Lindau disease when mutated VHLD von Hippel-Lindau disease VIP vasoactive intestinal peptide VIPR vasoactive intestinal peptide receptor vJNCL variant juvenile neuronal ceroid lipofuscinosis VKC vernal keratoconjunctivitis VKH Vogt-Koyanagi-Hirada syndrome or disease VLCFA very long chain fatty acid VLDL very low density lipoproteins VLGR1 the very large G-protein coupled receptor 1 gene
on chromosome 5 (5q14) vLINCL variant late infantile onset neuronal ceroid
lipofuscinosis VLM visceral larva migrans VMD2 the bestrophin gene on chromosome 11 (11q13) VSX1 the visual system homeobox gene 1 on chromosome
20 (20p11.2) VSV vesicular stomatitis virus VTNS the gene on chromosome 17 (17p13) that codes for a
transporter of cystine VWF von Willebrand factor VZV varicella zoster virus
WAGR syndrome Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome
WD repeat-containing protein 36 WDR36 a gene on chromosome 5 (5q22.1) that causes
primary open glaucoma when mutated WEE1 the Wee1 tyrosine kinase gene on chromosome 11
(11p15.3-p15.1) WG Wegener granulomatosis WHO World Health Organization WNTs a family of highly conserved developmental control
genes involved in signaling pathways that were first identified in Drosophila
Wnt4 a murine developmental control gene involved in signaling pathways that were first identified in Drosophila
WRD-36 an unusual extracellular matrix protein WT1 a gene on chromosome 11 (11p13) for a zinc finger
DNA-binding protein WTV weak transforming viruses
XIAP X-linked inhibitor of apoptosis protein XLRP X linked recessive retinitis pigmentosa XLRS X-linked retinoschisis XP xeroderma pigmentosum XR x-linked recessive xRP X-linked recessive retinitis pigmentosa
Z zeaxanthin and Zwischenscheibe Z band a perpendicularly arranged band in striated
muscle ZIP a family of metal ion transporters Zip4 the protein product of the SLC39A4 gene zTNF4 tumor necrosis factor ligand, member 13B (also
known as B cell activating factor [TNFSF13B]) ZNF9 the zinc finger protein 9 gene on chromosome 3
(3q21.3)
