EDARADD

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EDAR-associated death domain
Identifiers
Symbols EDARADD ; ECTD11A; ECTD11B; ED3; EDA3
External IDs OMIM606603 MGI1931001 HomoloGene15430 GeneCards: EDARADD Gene
RNA expression pattern
PBB GE EDARADD 217294 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 128178 171211
Ensembl ENSG00000186197 ENSMUSG00000095105
UniProt Q8WWZ3 Q5D0F1
RefSeq (mRNA) NM_080738 NM_133643
RefSeq (protein) NP_542776 NP_598398
Location (UCSC) Chr 1:
236.51 – 236.65 Mb
Chr 13:
12.47 – 12.52 Mb
PubMed search [1] [2]

Ectodysplasin-A receptor-associated adapter protein is a protein that in humans is encoded by the EDARADD gene.[1][2]

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.[2]

Interactions[edit]

EDARADD has been shown to interact with TRAF2.[3]

References[edit]

  1. ^ Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA (Jan 2002). "Gene defect in ectodermal dysplasia implicates a death domain adapter in development". Nature 414 (6866): 913–6. doi:10.1038/414913a. PMID 11780064. 
  2. ^ a b "Entrez Gene: EDARADD EDAR-associated death domain". 
  3. ^ Yan, Minhong; Zhang Zemin; Brady John Ridgway; Schilbach Sarah; Fairbrother Wayne J; Dixit Vishva M (Mar 2002). "Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice". Curr. Biol. (England) 12 (5): 409–13. doi:10.1016/S0960-9822(02)00687-5. ISSN 0960-9822. PMID 11882293. 

Further reading[edit]

External links[edit]