rs1569272194
This variant is located in the EDA gene.
▶ClinVar annotation
Hypohidrotic X-linked ectodermal dysplasia
View on ClinVar →About EDA
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]
View all EDA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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