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NFASC
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NFASC
Neurofascin is a protein that in humans is encoded by the NFASC gene.
Function
Neurofascin is an
L1 family
immunoglobulin
cell adhesion molecule
(see
L1CAM
) involved in
axon
subcellular targeting and
synapse
formation during
neural development
. ==Clinical importance==
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. == References ==
Source: Wikipedia ↗
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