Gene Symbol | EDA |
Entrez Gene ID | 1896 |
Full Name | ectodysplasin A |
Synonyms | ECTD1,ED1,ED1-A1,ED1-A2,EDA-A1,EDA-A2,EDA1,EDA2,HED,HED1,ODT1,STHAGX1,TNLG7C,XHED,XLHED |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3); Tooth agenesis, selective, X-linked 1, 313500 (3) |