rs2511735065
This variant is located in the SERPINB8 gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter3 publicationsAbout SERPINB8
The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]
View all SERPINB8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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