EDARADD

From Wikipedia, the free encyclopedia

EDAR-associated death domain

Identifiers

External IDs

OMIM: 606603 MGI: 1931001 HomoloGene: 15430

Gene ontology
Molecular Function:	• death receptor binding • protein binding
Cellular Component:	• cytoplasm
Biological Process:	• signal transduction • I-kappaB kinase/NF-kappaB cascade • multicellular organismal development • cell differentiation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_080738 (mRNA)
NP_542776 (protein)

NM_133643 (mRNA)
NP_598398 (protein)

Location

Chr 1: 234.62 - 234.71 Mb

Chr 13: 12.54 - 12.57 Mb

Pubmed search

[1]

[2]

EDAR-associated death domain, also known as EDARADD, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: EDARADD EDAR-associated death domain.

[edit] 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. 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. PMID 11882293.
Headon DJ, Emmal SA, Ferguson BM, et al. (2002). "Gene defect in ectodermal dysplasia implicates a death domain adapter in development.". Nature 414 (6866): 913-6. doi:10.1038/414913a. PMID 11780064.
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. PMID 9245989.