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EDA / Ectodysplasin A
ectodysplasin A
EDA / ED1 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.
| Gene Name: | ectodysplasin A |
| Synonyms: | EDA, ECTD1, Ectodermal dysplasia protein, Ectodysplasin-A, ED1, ED1-A1, Ectodysplasin A, EDA protein, EDA1, EDA2, Hed, HED1, ODT1, STHAGX1, XHED, XLHED, ED1-A2, Oligodontia 1 |
| Target Sequences: | NM_001399 NP_001390.1 Q92838 |
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