Description
Product Characteristics: The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants.,FKBP6,FKBP36,Epigenetics & Nuclear Signaling,Immunology & Inflammation,FKBP6
Target Information: The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein may have cis-trans prolyl isomerase activity, and binds to clathrin heavy chain and heat shock protein 72. This gene is found to be deleted in Williams syndrome, and the orthologous gene in mouse is essential for fertility and homologous pairing in male meiosis. [provided by RefSeq, Sep 2008]