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The EDAR gene encodes a 448 amino acid long, approximately 48 kDA tumor necrosis factor receptor superfamily member EDAR protein that monitors the activation of NF-kappa-B and JNK. It functions as a receptor for EDA isoform 1 but not for isoform 2. EDAR is critical for hair, teeth and other ectodermal derivatives development. EDAR participates in the TNF superfamily pathway, the integrated breast cancer pathway, and the cytokine-cytokine receptor interaction. It is known to interact with genes EDA, TRAF1, TRAF2, TRAF3, as well as EDARADD. Defects in EDAR cause ectodermal dysplasia 10A and 10B. EDAR is linked to hepatitis, immunodeficiency, osteosarcoma, hypotrichosis, tooth agenesis, breast cancer, Clouston syndrome, and ectodermal dysplasia.