NFASC
(Redirected from Neurofascin)
Template:Short description Template:Cs1 config Template:Infobox gene Neurofascin is a protein that in humans is encoded by the NFASC gene.[1][2][3]
Function
Neurofascin is an L1 family immunoglobulin cell adhesion molecule (see L1CAM) involved in axon subcellular targeting and synapse formation during neural development.[3][4]
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.[5]
References
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Further reading
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