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Ectodysplasin A

From Wikipedia, the free encyclopedia
EDA
Available structures
PDBOrtholog 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 IDsOMIM: 300451; MGI: 1195272; GeneCards: EDA; OMA:EDA - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)

NP_001005609
NP_001005610
NP_001005612
NP_001005613
NP_001390

Location (UCSC)Chr X: 69.62 – 70.04 MbChr X: 99.02 – 99.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5][6] It is recognized by the ectodysplasin A receptor.

Function

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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.[7] 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.[6] At least 61 disease-causing mutations in this gene have been discovered.[8]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000158813Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000059327Ensembl, 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. ^ 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. S2CID 25690815.
  6. ^ a b "Entrez Gene: EDA ectodysplasin A".
  7. ^ 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 4931016. PMID 27336951.
  8. ^ Šimčíková D, Heneberg P (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577. Bibcode:2019NatSR...918577S. doi:10.1038/s41598-019-54976-4. PMC 6901466. PMID 31819097.

Further reading

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