NFASC

Available structuresPDBOrtholog search:List of PDB id codes,

Available structures

PDBOrtholog search:

List of PDB id codes,

List of PDB id codes

Identifiers

Aliases, NF, NRCAML, neurofascin, NEDCPMD

External IDsOMIM: ; MGI: ; HomoloGene: ; GeneCards: ; OMA:

Gene location ( Human )

Chr.Chromosome 1 (human)

Band 1q32.1 Start 204,828,651 bp

End205,022,822 bp

Gene location ( Mouse )

Chr.Chromosome 1 (mouse)

Band 1 E4|1 57.42 cM Start 132,492,428 bp

End132,669,535 bp

RNA expression pattern

HumanMouse (ortholog)inferior olivary nucleus lateral nuclear group of thalamus external globus pallidus corpus callosum dorsal motor nucleus of vagus nerve inferior ganglion of vagus nerve glomerulus metanephric glomerulus pars reticulata pars compactaneural layer of retina visual cortex primary visual cortex central gray substance of midbrain cerebellar cortex superior cervical ganglion superior frontal gyrus anterior horn of spinal cord pontine nuclei lumbar subsegment of spinal cord

Human Mouse (ortholog)

inferior olivary nucleus lateral nuclear group of thalamus external globus pallidus corpus callosum dorsal motor nucleus of vagus nerve inferior ganglion of vagus nerve glomerulus metanephric glomerulus pars reticulata pars compactaneural layer of retina visual cortex primary visual cortex central gray substance of midbrain cerebellar cortex superior cervical ganglion superior frontal gyrus anterior horn of spinal cord pontine nuclei lumbar subsegment of spinal cord

neural layer of retina visual cortex primary visual cortex central gray substance of midbrain cerebellar cortex superior cervical ganglion superior frontal gyrus anterior horn of spinal cord pontine nuclei lumbar subsegment of spinal cord

Gene ontologyMolecular functionCellular componentBiological processSources: /

Gene ontology

Molecular function

Cellular component

Biological process

Sources: /

OrthologsSpeciesHumanMouseEntrez Ensembl UniProtRefSeq (mRNA)RefSeq (protein)Location (UCSC)PubMed search

Orthologs

Species Human Mouse

Entrez

Ensembl

UniProt

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

PubMed search

Wikidata

View/Edit HumanView/Edit Mouse

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

A homozygous mutation causing loss of Nfasc155 causes severe congenital hypotonia, contractures of fingers and toes and no reaction to touch or pain.

NFASC

Function

Clinical importance

Further reading