Aliases for EDA Gene
External Ids for EDA Gene
Previous HGNC Symbols for EDA Gene
Previous GeneCards Identifiers for EDA Gene
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]
GeneCards Summary for EDA Gene
EDA (Ectodysplasin A) is a Protein Coding gene. Diseases associated with EDA include tooth agenesis, selective, x-linked 1 and ectodermal dysplasia 1, hypohidrotic, x-linked. Among its related pathways are Immune System and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include receptor binding and tumor necrosis factor receptor binding.
UniProtKB/Swiss-Prot for EDA Gene
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.