Symbol: Name: ID: |
EDARADD EDAR-associated death domain GFS:3691 |
Gene name: | EDARADD |
Chromosome: | 1q42.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1931001 | Rat Genome Database ID: | RGD:1564010 |
HGNC ID: | HGNC:14341 | RefSeq IDs: | NM_080738 |
Entrez Gene ID: | 128178 | Ensembl Gene ID: | ENSG00000186197 |
VEGA IDs: | OTTHUMG00000039954 | UniProt ID: | Q8WWZ3 |
UCSC ID: | uc001hxu.1 | OMIM ID: | 606603 |
Pubmed: | PMID11780064 | ||
CCDS IDs: | CCDSCCDS1610.1 CCDS CCDS31065.1 |
Ectodysplasin-A receptor-associated adapter protein is a protein that in humans is encoded by the EDARADD gene.
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, Jul 2008].
Function: 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.
Products for EDARADD gene
Catalog | Product Name | Application | Company |
GFS:E03691 | EDAR-associated death domain; ELISA kit | ELISA | n/a |
GFS:A03691 | EDAR-associated death domain; Anti | ANTIBODIES | n/a |
GFS:P03691 | EDAR-associated death domain; Protien | Protien | n/a |