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).
Calvas, P, Chassaing, N, Viot, G, Vincent, MC, Bal, E, Smahi, A, Munnich, A, Cluzeau, C, Ginisty, D, Guigue, P
Brady, JR, Yan, M, Fairbrother, WJ, Zhang, Z, Schilbach, S, Dixit, VM
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