Ectodysplasin A2 receptor

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External IDsGeneCards: [1]
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Tumor necrosis factor receptor superfamily member 27 is a protein that in humans is encoded by the EDA2R gene.[1][2]

EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. The protein encoded by this gene specifically binds to EDA-A2 isoform. This protein is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains 3 cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. Multiple alternatively spliced transcript variants have been found for this gene, but some variants lack sufficient support.[2]

References

  1. Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, de Vos AM, Gao WQ, Dixit VM (Oct 2000). "Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors". Science. 290 (5491): 523–7. doi:10.1126/science.290.5491.523. PMID 11039935.
  2. 2.0 2.1 "Entrez Gene: EDA2R ectodysplasin A2 receptor".

Further reading

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