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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for EDA (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1896
Official gene symbolEDA
Full nameectodysplasin A
Aliases,ED1,ED1-A1,ED1-A2,EDA1,EDA2,HED,STHAGX1,XHED,XLHED,
Gene summaryThe 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]
LocationChromosome: X   Locus: Xq12-q13.1
Gene position68835911 - 69259322  Map Viewer
Gene orientationplus
Gene size423412 bp
Gene sequence
OMIM ID300451