NFASC
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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Neurofascin is a protein that in humans is encoded by the NFASC gene.[1][2][3]
Function
[edit | edit source]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
[edit | edit source]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
[edit | edit source]- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
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