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Official Full Name: EDAR associated via death domain
Also known as: CR; ED3; EDA3; ECTD11A; ECTD11B
The gene is associated with ectodermal dysplasia, an inherited disorder characterized by defects in the development of hair, teeth and sweat glands. The protein encoded by this gene is a death domain-containing protein and was found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives . This protein is co-expressed with EDAR in epithelial cells during the formation of hair follicles and teeth. By interacting with EDAR, the protein acts as a linker, linking the receptor to downstream signaling pathways. Two alternatively spliced transcript variants encoding different isoforms of this gene have been reported.