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EDA

Ectodysplasin A (EDA), also known as ED1, HED, EDA1, ODT1, XHED, TNLG7C, STHAGX1, is a type II transmembrane protein that belongs to the TNF superfamily. This protein is also a member of the tumor necrosis factor family and it may be involved in cell-cell signaling during the development of ectodermal organs. The EDA gene encodes two splice variants, designated as EDA-A1 and EDA-A2. Compared to EDA-A1, EDA-A2 is found to lack two amino acids in the extracellular domain. Despite this minor difference, the two EDA variants display strong receptor specificity. EDA-A1 only binds EDAR, a member of the TNF Receptor superfamily (TNFRSF), whereas EDA-A2 binds to XEDAR, an X-linked TNFRSF member with high homology to EDA.

The expression of EDA is not very abundant and is detected in specific cell types of ectodermal origin of keratinocytes, hair follicles, sweat glands as well as adult heart, uterus, muscle, pancreas…. Defects in EDA gene can cause ctodermal dysplasia type 1 (ED1, also called Christ-Siemens-Touraine syndrome or X-linked hypohidrotic ectodermal dysplasia) and tooth agenesis selective X-linked type 1 (STHAGX1).

Gene ID: 1896
UniProt ID: Q92838