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proteins. Page last changed on 08 Dec 2016.
Ectodysplasin A2 receptor
XEDAR, EDA2R, X-linked ectodysplasin-A2 receptor
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. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2011] (from
because no frequent variant other than rs1385699 has been reported in EDA2R in the European population, it is probable that the causative variant(s) modifies the expression of one or more flanking genes, i.e. AR and EDA2R