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EDARADD EDAR-associated death domain [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_080738 Homo sapiens EDAR-associated death domain (EDARADD), transcript variant B, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_145861 Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA. GenEZ ORF Cloning On-demand $399.00 14

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Gene Symbol EDARADD
Entrez Gene ID 128178
Full Name EDAR-associated death domain
Synonyms ECTD11A, ECTD11B, ED3, EDA3
General protein information
Preferred Names
ectodysplasin-A receptor-associated adapter protein
Names
ectodysplasin-A receptor-associated adapter protein
crinkled homolog
EDAR-associated death domain protein
ectodysplasia A receptor associated death domain
ectodysplasin A receptor associated adapter protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q42.3

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].
Disorder

MIM: 606603

Ectodermal dysplasia, anhidrotic, autosomal recessive, 224900 (3);

mRNA Protein Product Sequence Price Select
NM_080738, 153267424 NP_542776, 18152769 ectodysplasin-A receptor-associated adapter protein isoform B ORF Sequence $250.00
NM_145861, 153267417 NP_665860, 153267418 ectodysplasin-A receptor-associated adapter protein isoform A ORF Sequence $250.00
Homo sapiens (human)EDARADDNP_665860.2
Macaca mulatta (Rhesus monkey)EDARADDXP_001099801.1
Canis lupus familiaris (dog)EDARADDXP_005618853.1
Bos taurus (cattle)EDARADDXP_002698858.2
Mus musculus (house mouse)EdaraddNP_598398.3
Rattus norvegicus (Norway rat)EdaraddXP_574055.4
Gallus gallus (chicken)EDARADDNP_001012405.2
Danio rerio (zebrafish)edaraddXP_695138.4
Xenopus (Silurana) tropicalis (western clawed frog)LOC100490133XP_002933922.2
Process
IDNameEvidence
GO:0001942hair follicle developmentIEA
GO:0007165signal transductionIEA
GO:0030154cell differentiationIEA
GO:0042475odontogenesis of dentin-containing toothIEA
GO:0061153trachea gland developmentIEA
Component
IDNameEvidence
GO:0005737cytoplasmIEA
GeneCards EDARADD
UniProt Q8WWZ3
Vega OTTHUMG00000039954
MIM 606603
Ensembl ENSG00000186197
HGNC 14341
HPRD 05965

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Interactant

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