EDARADD
| EDAR-associated death domain | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | EDARADD ; ECTD11A; ECTD11B; ED3; EDA3 | ||||||||||||
| External IDs | OMIM: 606603 MGI: 1931001 HomoloGene: 15430 GeneCards: EDARADD Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| 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: 236.35 – 236.48 Mb |
Chr 13: 12.47 – 12.52 Mb | |||||||||||
| PubMed search | |||||||||||||
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,and specifically with hypohidrotic 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
EDARADD has been shown to interact with TRAF2.[3]
References
- ↑ 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.
- 1 2 "Entrez Gene: EDARADD EDAR-associated death domain".
- ↑ 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
- Thesleff I, Mikkola ML (2002). "Death receptor signaling giving life to ectodermal organs.". Sci. STKE 2002 (131): PE22. doi:10.1126/stke.2002.131.pe22. PMID 11997580.
- Gregory SG, Barlow KF, McLay KE; et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Yan M, Zhang Z, Brady JR; et al. (2002). "Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice". Curr. Biol. 12 (5): 409–13. doi:10.1016/S0960-9822(02)00687-5. PMID 11882293.
- Kumar A, Eby MT, Sinha S; et al. (2001). "The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A". J. Biol. Chem. 276 (4): 2668–77. doi:10.1074/jbc.M008356200. PMID 11035039.
- Munoz F, Lestringant G, Sybert V; et al. (1997). "Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder". Am. J. Hum. Genet. 61 (1): 94–100. doi:10.1086/513905. PMC 1715866. PMID 9245989.
External links
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