Human EDA2R Protein, ECD (Extracellular Domain), Fc-fusion, Biotinylated, Recombinant

Description :
EDA2R (ectodysplasin A2 receptor), also known as XEDAR (X­linked Ectodysplasin Receptor), is a single-pass, type III transmembrane glycoprotein in the TNF receptor superfamily (TNFRSF27). The extracellular domain (ECD) of EDA2R contains three TNFR cysteine­rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. The cytoplasmic region of EDA2R lacks a death domain (DD) that is found in EDAR and other TNFRSF members. EDA2R is widely expressed, notably in embryonic basal epidermal cells and maturing hair follicles. EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Other than a 2 aa deletion in its TNF­like domain, EDA­A2 is identical to EDA­A1. Mutations in EDA give rise to a clinical syndrome hypohidrotic ectodermal dysplasia (HED), which is characterized by loss of hair, sweat glands, and teeth. EDA2R specifically binds to EDA-A2 isoform but not EDA-A1. EDA2R itself is strongly associated with androgenetic alopecia (male hair loss). Even though it does not contain a cytoplasmic death domain, EDA2R can associate with Fas and induce p53-dependent cell death. EDA2R is down-regulated in breast, colon, and lung cancers, particularly in patients with p53 mutations. EDA2R also plays a role in EDA-A2 induced skeletal muscle degeneration and osteoblast differentiation.