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

• Neurofascin
• KIAA0756
• NFASC

Database links

• entrezGene:23114
• omim:609145
• swissprot:O94856

Target type

Proteins

Primary research area

Neuroscience

Molecular weight

119911Da