NFASC

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

NFASC
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNFASC, NF, NRCAML, neurofascin, NEDCPMD
External IDsOMIM: 609145 MGI: 104753 HomoloGene: 24945 GeneCards: NFASC
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

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. GRCh38: Ensembl release 89: ENSG00000163531 - Ensembl, May 2017
  2. 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. "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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.