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EDARA gene on chromosome 2q13 that encodes ectodysplasin A receptor, a member of the tumour necrosis factor receptor family, which is a receptor for the soluble ligand ectodysplasin A. Once bound, EDAR activates the nuclear factor-kappaB, JNK and caspase-independent cell death pathways. EDAR is required for the development of hair, teeth and other ectodermally derived tissues.
EDAR mutations result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia.
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