Neurofascin (NFASC)

Neurofascin (NFASC) is a cell adhesion molecule belonging to the L1 subgroup of the immunoglobulin superfamily, produced in multiple isoforms by alternative splicing, and predominantly expressed in the central and peripheral nervous systems. It is localized at the axon initial segment (AIS) and nodes of Ranvier, where it interacts with voltage-gated sodium channels, ankyrin-G, and βIV-spectrin, forming specialized neuronal domains critical for saltatory conduction and neural signaling. Neurofascin is essential for synapse formation, axonal organization, and myelin-axon integrity, acting as a link between extracellular matrices and the cytoskeleton. Loss or mutation of neurofascin results in severe neurodevelopmental disorders, profound motor deficits, and ataxia; it is also a target of autoantibodies in certain autoimmune neuropathies, increasing disease severity by impairing axonal integrity and repair.

Other names

NeurofascinNFASCKIAA0756NRCAMLFLJ46866NEDCPMDBrain-specific angiogenesis inhibitor 3neurofascin homolog

Not applicable; monoclonal autoantibodies against neurofascin can be pathogenic by disrupting axonal conduction and myelination