Ectodysplasin-A receptor-associated adapter protein is a protein that in humans is encoded by the EDARADDgene.
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.
^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. ISSN0960-9822. PMID11882293.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature441 (7091): 315–21. doi:10.1038/nature04727. PMID16710414.
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. PMID14702039.
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. PMC139241. PMID12477932.
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. PMID11882293.
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. PMID11035039.
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. PMC1715866. PMID9245989.