EDARADD Antibody – Rabbit Polyclonal

EDARADD: Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF- kappa-B. Defects in EDARADD 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. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 1q42.3

Cellular Component: cytoplasm

Biological Process: hair follicle development; cell differentiation; signal transduction; odontogenesis of dentine-containing teeth

Disease: Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant; Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant; Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive; Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive