NFASC

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Neurofascin is a protein that in humans is encoded by the NFASC gene.[5][6][7]

PDBOrtholog search: PDBe RCSB
AliasesNFASC, NF, NRCAML, neurofascin, NEDCPMD
Quick facts Available structures, PDB ...
NFASC
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNFASC, NF, NRCAML, neurofascin, NEDCPMD
External IDsOMIM: 609145; MGI: 104753; HomoloGene: 24945; GeneCards: NFASC; OMA:NFASC - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001160316
NM_001160317
NM_001160318
NM_182716

RefSeq (protein)

NP_001153788
NP_001153789
NP_001153790
NP_874385

Location (UCSC)Chr 1: 204.83 – 205.02 MbChr 1: 132.49 – 132.67 Mb
PubMed search[3][4]
Wikidata
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Function

Neurofascin is an L1 family immunoglobulin cell adhesion molecule (see L1CAM) involved in axon subcellular targeting and synapse formation during neural development.[7][8]

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.[9]

References

Further reading

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