EDAR Antibody – Rabbit Polyclonal

EDAR: Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death. Defects in EDAR are a cause of ectodermal dysplasia anhidrotic (EDA); also known ectodermal dysplasia hypohidrotic autosomal recessive (HED). Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDA is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. Defects in EDAR are the cause of ectodermal dysplasia type 3 (ED3); also known as ectodermal dysplasia hypohidrotic autosomal dominant or EDA3. ED3 is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands.

Protein type: Receptor, misc.; Membrane protein, integral

Chromosomal Location of Human Ortholog: 2q13

Cellular Component: apical part of cell; plasma membrane; integral to membrane

Molecular Function: protein binding; transmembrane receptor activity; receptor activity

Biological Process: epidermis development; pigmentation; hair follicle development; apoptosis; positive regulation of NF-kappaB import into nucleus; cell differentiation; signal transduction; odontogenesis of dentine-containing teeth

Disease: Hair Morphology 1; Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant; Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive