NFASC
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Neurofascin is a protein that in humans is encoded by the NFASC gene.[5][6][7]
External IDsOMIM: 609145; MGI: 104753; HomoloGene: 24945; GeneCards: NFASC; OMA:NFASC - orthologs
Function
Neurofascin is an L1 family immunoglobulin cell adhesion molecule (see L1CAM) involved in axon subcellular targeting and synapse formation during neural development.[7][8]
Clinical importance
A homozygous mutation causing loss of Nfasc155 causes severe congenital hypotonia, contractures of fingers and toes and no reaction to touch or pain.[9]