Description
Product Characteristics:
Seems to be involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Isoform 1 binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor XEDAR.
Subcellular location: Secreted, Cell membrane
Synonyms: ED1, HED, EDA1, EDA2, HED1, ODT1, XHED, ECTD1, XLHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2, STHAGX1, Ectodysplasin-A, Ectodermal dysplasia protein, EDA protein, EDA
Target Information: 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]