The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene.
EDA; ectodysplasin A; ectodermal dysplasia 1, anhidrotic , ED1, EDA2, ODT1, oligodontia 1; ectodysplasin-A; ED1 A1; ED1 A2; EDA1; HED; XHED; XLHED; oligodontia 1; ectodermal dysplasia protein; X-linked anhidroitic ectodermal dysplasia protein; ED1; EDA2; ODT1; ED1-A1; ED1-A2; STHAGX1; ED1, HED, EDA1, EDA2, HED1, ODT1, XHED, ECTD1, XLHED, ED1-A1, ED1-A2, STHAGX1; si:ch73-223d24.5; nkt; nackt