Sequence in raw or FASTA format:
EDARADD EDAR-associated death domain [Homo sapiens (human)]
|Entrez Gene ID||128178|
|Full Name||EDAR-associated death domain|
|Synonyms||ECTD11A, ECTD11B, ED3, EDA3|
|General protein information||
|Organism||Homo sapiens (human)|
|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, Jul 2008].|
Ectodermal dysplasia, anhidrotic, autosomal recessive, 224900 (3);
|Homo sapiens (human)||EDARADD||NP_665860.2|
|Macaca mulatta (Rhesus monkey)||EDARADD||XP_001099801.1|
|Canis lupus familiaris (dog)||EDARADD||XP_005618853.1|
|Bos taurus (cattle)||EDARADD||XP_002698858.2|
|Mus musculus (house mouse)||Edaradd||NP_598398.3|
|Rattus norvegicus (Norway rat)||Edaradd||XP_574055.4|
|Gallus gallus (chicken)||EDARADD||NP_001012405.2|
|Danio rerio (zebrafish)||edaradd||XP_695138.4|
|Xenopus (Silurana) tropicalis (western clawed frog)||LOC100490133||XP_002933922.2|
|GO:0001942||hair follicle development||IEA|
|GO:0042475||odontogenesis of dentin-containing tooth||IEA|
|GO:0061153||trachea gland development||IEA|
What is the normal function of the EDARADD gene?
The EDARADD gene provides instructions for making a protein called the EDAR-associated death domain protein. This protein is part of a signaling pathway that plays an important role in development before birth. Specifically, it is critical for interactions between two embryonic cell layers called the ectoderm and the mesoderm. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interactions are essential for the formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands.
The EDARADD protein interacts with another protein, called the ectodysplasin A receptor, which is produced from the EDAR gene. This interaction occurs at a region called the death domain that is present in both proteins. The EDARADD protein acts as an adapter, which means it assists the ectodysplasin A receptor in triggering chemical signals within cells. These signals affect cell activities such as division, growth, and maturation. Before birth, this signaling pathway controls the formation of ectodermal structures such as hair follicles, sweat glands, and teeth.
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