Ectodysplasin A

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EDA
Protein EDA PDB 1rj7.png
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesEDA, ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, XHED, XLHED, TNLG7C, ectodysplasin A
External IDsGeneCards: EDA
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for EDA
Genomic location for EDA
BandXq13.1Start69,616,067 bp[1]
End70,039,469 bp[1]
RNA expression pattern
PBB GE EDA 206217 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

RefSeq (protein)

NP_001005609
NP_001005610
NP_001005612
NP_001005613
NP_001390

n/a

Location (UCSC)Chr X: 69.62 – 70.04 Mbn/a
PubMed search[2]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.[3][4] It is recognized by the ectodysplasin A receptor.

Function[edit]

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.[5] 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.[4]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000158813 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: EDA ectodysplasin A". 
  5. ^ 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[edit]

External links[edit]