ABSTRACT

Members of the immunoglobulin superfamily family of proteins are important mediators of nervous system development and function. To date two debilitating human hereditary neurological disorders have been found to be due to defects in these molecules testifying to their importance. A disorder of peripheral myelination involves the single Ig domain containing myelin protein zero (MPZ, Po) protein, whereas, the multi-domain neural cell adhesion molecule L1 is affected in a disorder primarily affecting the central nervous system. These discoveries provide evidence for the role of these molecules in different areas of nervous system development and provide a focus for examining their function in man.