Entrez gene ID | | 1896 |
Official gene symbol | | EDA |
Full name | | ectodysplasin A |
Aliases | | ,ED1,ED1-A1,ED1-A2,EDA1,EDA2,HED,STHAGX1,XHED,XLHED, |
Gene 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] |
Location | | Chromosome: X Locus: Xq12-q13.1 |
Gene position | | 68835911 - 69259322 Map Viewer |
Gene orientation | | plus |
Gene size | | 423412 bp |
Gene sequence |
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OMIM ID | | 300451 |
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