NFASC

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

23114

269116

Ensembl

ENSG00000163531

ENSMUSG00000026442

UniProt

O94856

Q810U3

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
View/Edit HumanView/Edit Mouse

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

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163531 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026442 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Volkmer H, Hassel B, Wolff JM, Frank R, Rathjen FG (July 1992). "Structure of the axonal surface recognition molecule neurofascin and its relationship to a neural subgroup of the immunoglobulin superfamily". The Journal of Cell Biology. 118 (1): 149–61. doi:10.1083/jcb.118.1.149. PMC 2289533. PMID 1377696.
  6. ^ Burmeister M, Ren Q, Makris GJ, Samson D, Bennett V (July 1996). "Genes for the neuronal immunoglobulin domain cell adhesion molecules neurofascin and Nr-CAM map to mouse chromosomes 1 and 12 and homologous human chromosomes". Mammalian Genome. 7 (7): 558–9. doi:10.1007/s003359900168. PMID 8672144. S2CID 29190292.
  7. ^ a b "Entrez Gene: NFASC neurofascin homolog (chicken)".
  8. ^ Ango F, di Cristo G, Higashiyama H, Bennett V, Wu P, Huang ZJ (October 2004). "Ankyrin-based subcellular gradient of neurofascin, an immunoglobulin family protein, directs GABAergic innervation at purkinje axon initial segment". Cell. 119 (2): 257–72. doi:10.1016/j.cell.2004.10.004. PMID 15479642. S2CID 16245348.
  9. ^ Smigiel R, Sherman DL, Rydzanicz M, Walczak A, Mikolajkow D, Krolak-Olejnik B, Kosinska J, Gasperowicz P, Biernacka A, Stawinski P, Marciniak M, Andrzejewski W, Boczar M, Krajewski P, Sasiadek MM, Brophy PJ, Ploski R (August 2018). "Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia". Human Molecular Genetics. 27 (21): 3669–3674. doi:10.1093/hmg/ddy277. PMC 6196652. PMID 30124836.

Further reading


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