EDA (gene)

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Ectodysplasin A
Protein EDA PDB 1rj7.png
PDB rendering based on 1rj7.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols EDA ; ECTD1; ED1; ED1-A1; ED1-A2; EDA1; EDA2; HED; HED1; ODT1; STHAGX1; XHED; XLHED
External IDs OMIM300451 MGI1195272 HomoloGene68180 GeneCards: EDA Gene
RNA expression pattern
PBB GE EDA 206217 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1896 13607
Ensembl ENSG00000158813 ENSMUSG00000059327
UniProt Q92838 O54693
RefSeq (mRNA) NM_001005609 NM_001177937
RefSeq (protein) NP_001005609 NP_001171408
Location (UCSC) Chr X:
68.84 – 69.26 Mb
Chr X:
99.98 – 100.4 Mb
PubMed search [1] [2]

Ectodysplasin-A is a protein that in humans is encoded by the EDA gene.[1][2]

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. 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.[2]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: EDA ectodysplasin A". 

Further reading[edit]

External links[edit]