EDA binds EDAR

Stable Identifier
R-HSA-5669012
Type
Reaction [binding]
Species
Homo sapiens
Compartment
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Ectodysplasin-A (EDA) is a trimeric type II membrane protein whose sequence includes an interrupted collagenous domain of 19 Gly-X-Y repeats and a motif conserved in the tumor necrosis factor (TNF)-related ligand family. EDA regulates ectodermal appendage formation by colocalising with cytoskeletal structures on cell surfaces (Ezer et al. 1999). 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 of hair follicles, teeth, exocrine glands and other ectodermal structures. EDA isoform 1 specifically binds EDAR. Defects in EDA can cause X-linked hypohydrotic ectodermal dysplasia 1 (ECTD1), the most common of many distinct ectodermal dysplasias characterised by sparse hair, abnormal or missing teeth and the inability to sweat (Cluzeau et al. 2011, Sadier et al. 2014).

Literature References
PubMed ID Title Journal Year
14656435 The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity

Hymowitz, SG, Compaan, DM, Yan, M, Wallweber, HJ, Dixit, VM, Starovasnik, MA, de Vos, AM

Structure 2003
10484778 Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells

Ezer, S, Bayés, M, Elomaa, O, Schlessinger, D, Kere, J

Hum. Mol. Genet. 1999
20979233 Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Cluzeau, C, Hadj-Rabia, S, Jambou, M, Mansour, S, Guigue, P, Masmoudi, S, Bal, E, Chassaing, N, Vincent, MC, Viot, G, Clauss, F, Manière, MC, Toupenay, S, Le Merrer, M, Lyonnet, S, Cormier-Daire, V, Amiel, J, Faivre, L, de Prost, Y, Munnich, A, Bonnefont, JP, Bodemer, C, Smahi, A

Hum. Mutat. 2011
24070496 The ectodysplasin pathway: from diseases to adaptations

Sadier, A, Viriot, L, Pantalacci, S, Laudet, V

Trends Genet. 2014
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