NFASC
Domain
Homophilic adhesion is primarily mediated by the interaction of the second Ig-like domains.
Function
Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions.
Involvement in disease
Neurodevelopmental disorder with central and peripheral motor dysfunction
NEDCPMD
An autosomal recessive neurodevelopmental disorder with early onset and a highly variable phenotype. Disease features include hypotonia apparent from birth, poor feeding, global developmental delay with absence of reaction to touch and no eye contact, infantile-onset progressive ataxia and demyelinating peripheral neuropathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Isoform 8
- Cell junction
- Paranodal septate junction
Alternative names
KIAA0756, NFASC, Neurofascin