EDA binds EDAR

Stable Identifier
Homo sapiens
Locations in the PathwayBrowser

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).

Participant Of
Orthologous Events