ectodysplasin A
Alias
ECTD1 | ED1 | ED1-A1 | ED1-A2 | EDA-A1 | EDA-A2 | EDA1 | EDA2 | HED | HED1 | ODT1 | STHAGX1 | TNLG7C | XHED | XLHED
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. [provided by RefSeq, Jul 2008].