Entrez gene ID | | 10913 |
Official gene symbol | | EDAR |
Full name | | ectodysplasin A receptor |
Aliases | | ,DL,ED1R,ED3,ED5,EDA-A1R,EDA1R,EDA3,FLJ94390,HRM1, |
Gene 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] |
Location | | Chromosome: 2 Locus: 2q11-q13 |
Gene position | | 109605828 - 109510927 Map Viewer |
Gene orientation | | minus |
Gene size | | 94902 bp |
Gene sequence |
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OMIM ID | | 604095 |
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