EDARADD explained

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

Function

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]

Further reading

• Thesleff I, Mikkola ML . Death receptor signaling giving life to ectodermal organs . Science's STKE . 2002 . 131 . pe22 . May 2002 . 11997580 . 10.1126/stke.2002.131.pe22 . 36068881 .
• Yan M, Zhang Z, Brady JR, Schilbach S, Fairbrother WJ, Dixit VM . Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice . Current Biology . 12 . 5 . 409–13 . March 2002 . 11882293 . 10.1016/S0960-9822(02)00687-5 . 9911697 . free . 2002CBio...12..409Y .
• Kumar A, Eby MT, Sinha S, Jasmin A, Chaudhary PM . The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A . The Journal of Biological Chemistry . 276 . 4 . 2668–77 . January 2001 . 11035039 . 10.1074/jbc.M008356200 . free .
• Munoz F, Lestringant G, Sybert V, Frydman M, Alswaini A, Frossard PM, Jorgenson R, Zonana J . Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder . American Journal of Human Genetics . 61 . 1 . 94–100 . July 1997 . 9245989 . 1715866 . 10.1086/513905 .

External links

• GeneReview/NIH/UW entry on Hypohidrotic Ectodermal Dysplasia

Notes and References

1. Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA . Gene defect in ectodermal dysplasia implicates a death domain adapter in development . Nature . 414 . 6866 . 913–6 . Jan 2002 . 11780064 . 10.1038/414913a . 4380080 .
2. Web site: Entrez Gene: EDARADD EDAR-associated death domain.
3. Yan M, Zhang Z, Brady JR, Schilbach S, Fairbrother WJ, Dixit VM . Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice . Current Biology . 12 . 5 . 409–13 . March 2002 . 11882293 . 10.1016/S0960-9822(02)00687-5 . 9911697 . free . 2002CBio...12..409Y .