Ectodysplasin A2 Receptor (EDA2R)

XEDAR; EDA-A2R; EDAA2R; TNFRSF27; X-linked ectodysplasin-A2 receptor

SPN	S858
HGNC	17756
MGI	2442860
PubMed	22309448
RGD	1564025
UniProt	Q9HAV5

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.

Tumor necrosis factor receptor superfamily member 27 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.

Reference

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