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


RefSeq Accession Definition Services Price Order
NM_080738 Homo sapiens EDAR-associated death domain (EDARADD), transcript variant B, mRNA. ORF Sequence $179.22
Peptide Services
Antibody Services
Protein Services
NM_145861 Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA. ORF Sequence $187.92
Peptide Services
Antibody Services
Protein Services


Gene Symbol EDARADD
Entrez Gene ID 128178
Full Name EDAR-associated death domain
Synonyms ED3, EDA3
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 Full Length $838.39
ORF Sequence $179.22
NM_145861, 153267417 NP_665860, 153267418 ectodysplasin-A receptor-associated adapter protein isoform A Full Length $803.88
ORF Sequence $187.92
Homo sapiens (human)EDARADDNP_665860.2
Macaca mulatta (Rhesus monkey)EDARADDXP_001099801.1
Canis lupus familiaris (dog)LOC100856497XP_003639030.1
Bos taurus (cattle)EDARADDXP_002698858.1
Mus musculus (house mouse)EdaraddNP_598398.3
Rattus norvegicus (Norway rat)EdaraddXP_574055.3
Gallus gallus (chicken)EDARADDNP_001012405.2
Danio rerio (zebrafish)LOC566761XP_695138.4
GeneCards EDARADD
UniProt Q8WWZ3
MIM 606603
Ensembl ENSG00000186197
HGNC 14341
HPRD 05965

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

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

Interactant

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