Gene Symbol | EDAR |
Entrez Gene ID | 10913 |
Full Name | ectodysplasin A receptor |
Synonyms | DL,ECTD10A,ECTD10B,ED1R,ED3,ED5,EDA-A1R,EDA1R,EDA3,HRM1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3); Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3); [Hair morphology 1, hair thickness], 612630 (3) |