ectodysplasin A receptor

ectodysplasin A receptor

A protein encoded by EDAR on chromosome 2q13 that belongs to the tumour necrosis factor receptor family and 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 normal development of hair, teeth and other ectodermally derived tissues.

Molecular pathology
EDAR mutations result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia.