Aliases for NFASC Gene
External Ids for NFASC Gene
Previous GeneCards Identifiers for NFASC Gene
This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]
GeneCards Summary for NFASC Gene
NFASC (Neurofascin) is a Protein Coding gene. Diseases associated with NFASC include Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction and Cone-Rod Dystrophy And Hearing Loss 2. Among its related pathways are Innate Immune System and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include protein binding involved in heterotypic cell-cell adhesion. An important paralog of this gene is NRCAM.
UniProtKB/Swiss-Prot for NFASC Gene
Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions.