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NFASC
Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
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Neurofascin is a protein that in humans is encoded by the NFASC gene.[5][6][7]
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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]
References
Further reading
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