Ectodysplasin A

EDA
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
Aliases EDA, ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, XHED, XLHED, TNLG7C, ectodysplasin A
External IDs GeneCards: EDA
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

1896

n/a

Ensembl

ENSG00000158813

n/a

UniProt

Q92838

n/a

RefSeq (mRNA)

n/a

RefSeq (protein)

NP_001005609.1
NP_001005610.2
NP_001005612.2
NP_001005613.1
NP_001390.1

n/a

Location (UCSC) Chr X: 69.62 – 70.04 Mb n/a
PubMed search [1] n/a
Wikidata
View/Edit Human

Ectodysplasin A (EDA) is a protein that in humans is encoded by the EDA gene.

Ectodysplasin A is a transmembrane protein of the TNF family which plays an important role in the development of ectodermal tissues such as skin in humans.[2][3] It is recognized by the ectodysplasin A receptor.

Function

The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Along with c-Met, it has been shown to be involved in the differentiation of anatomical placodes, precursors of scales, feathers and hair follicles in vertebrates.[4] Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene.[3]

References

  1. "Human PubMed Reference:".
  2. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D (Sep 1996). "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein". Nat Genet. 13 (4): 409–16. doi:10.1038/ng0895-409. PMID 8696334.
  3. 1 2 "Entrez Gene: EDA ectodysplasin A".
  4. Barrow-McGee R, Kishi N, Joffre C, Ménard L, Hervieu A, Bakhouche BA, et al. (2016). "Beta 1-integrin-c-Met cooperation reveals an inside-in survival signalling on autophagy-related endomembranes". Nature Communications. 7: 11942. Bibcode:2016NatCo...711942B. doi:10.1038/ncomms11942. PMC 4931016Freely accessible. PMID 27336951.

Further reading

External links


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