Entrez gene ID | | 128178 |
Official gene symbol | | EDARADD |
Full name | | EDAR-associated death domain |
Aliases | | ,ED3,EDA3, |
Gene summary | | This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1q42.3-q43 |
Gene position | | 236557680 - 236648008 Map Viewer |
Gene orientation | | plus |
Gene size | | 90329 bp |
Gene sequence |
| |
OMIM ID | | 606603 |
|