The Ectodysplasin A2 Receptor (EDA2R), also known as Tumor Necrosis Factor Receptor Superfamily Member 27 (TNFRSF27) or X-linked Ectodysplasin-A2 Receptor (XEDAR), is a protein encoded by the EDA2R gene in humans . This receptor is part of the tumor necrosis factor (TNF) receptor superfamily and plays a crucial role in the development and maintenance of ectodermal tissues, including hair, teeth, and sweat glands .
The EDA2R gene is located on the X chromosome (Xq12) and encodes a type III transmembrane protein . The protein consists of three cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide . The EDA2R protein specifically binds to the EDA-A2 isoform of ectodysplasin, which is a member of the TNF family of ligands .
EDA2R mediates the activation of several signaling pathways, including the NF-kappa-B and JNK pathways . Activation of these pathways is essential for the proper development of ectodermal tissues. The receptor’s interaction with the EDA-A2 isoform is crucial for the maintenance of hair and teeth . Additionally, EDA2R is involved in the positive regulation of the JNK cascade, NF-kappaB transcription factor activity, and intrinsic apoptotic signaling pathways .
Mutations in the EDA2R gene can lead to ectodermal dysplasia, a group of disorders characterized by abnormalities in the development of ectodermal tissues . These disorders often result in symptoms such as loss of hair, sweat glands, and teeth . Understanding the function and signaling mechanisms of EDA2R is crucial for developing potential therapeutic strategies for these conditions.
Recombinant EDA2R is a human-made version of the natural receptor, produced using recombinant DNA technology. This technology allows for the production of large quantities of the receptor for research and therapeutic purposes. Recombinant EDA2R is used in various studies to understand its role in ectodermal development and to develop potential treatments for ectodermal dysplasia and other related disorders .