EDA:EDAR binds EDARADD

Stable Identifier
R-HSA-5675656
Type
Reaction [binding]
Species
Homo sapiens
Compartment
ReviewStatus
5/5
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Ectodysplasin-A (EDA) is a trimeric type II membrane protein related to the tumor necrosis factor (TNF)-related ligand family. Activation of the NF-kappaB pathway by the tumor necrosis factor receptor superfamily member EDAR (EDAR) and its downstream adaptator EDAR-associated death domain (EDARADD) is essential for the development and regulation of hair follicles, teeth, exocrine glands and other ectodermal structures (Yan et al. 2002). EDA isoform 1 specifically binds EDAR. A small number of hypohidrotic ectodermal dysplasias (HEDs) are caused by mutations in EDARADD (Chassaing et al. 2010).
Literature References
PubMed ID Title Journal Year
20222921 Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases

Calvas, P, Chassaing, N, Viot, G, Vincent, MC, Bal, E, Smahi, A, Munnich, A, Cluzeau, C, Ginisty, D, Guigue, P

Br. J. Dermatol. 2010
11882293 Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice

Brady, JR, Yan, M, Fairbrother, WJ, Zhang, Z, Schilbach, S, Dixit, VM

Curr. Biol. 2002
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