Alias |
ECTD1,Ectodermal dysplasia 1,anhidrotic,Ectodermal dysplasia protein,Ectodermal dysplasia,anhidrotic (hypohydrotic),membrane form,Ectodysplasin A,ECTODYSPLASIN A1 ISOFORM,ECTODYSPLASIN A2 ISOFORM,ECTODYSPLASIN,Ectodysplasin-A,ED1 A1,ED1 A2,ED1,ED1 GENE,Eda A1,Eda A2,eda,EDA protein,EDA protein homolog,EDA,EDA1,EDA1 GENE,EDA2,HED,HED1,ODT1,Oligodontia 1,secreted form,STHAGX1,Ta,Tabby,Tabby protein,X linked anhidroitic ectodermal dysplasia protein,XHED,XLHED |
Background |
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. |