EDAR

This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq]

ectodysplasin A receptor

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.

Apoptotic process Source: UniProtKB-KW
Cell differentiation Source: UniProtKB-KW
Epidermis development Source: HGNC-UCL
Hair follicle development Source: Ensembl
Odontogenesis of dentin-containing tooth Source: Ensembl
Pigmentation Source: Ensembl
Positive regulation of gene expression Source: Ensembl
Positive regulation of I-kappaB kinase/NF-kappaB signaling Source: GO_Central
Positive regulation of JNK cascade Source: GO_Central
Positive regulation of NIK/NF-kappaB signaling Source: Ensembl
Salivary gland cavitation Source: Ensembl

Membrane

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A):
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands.
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B):
A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.

Extracellular: 27-187
Helical: 188-208
Cytoplasmic: 209-448