Description
Product Characteristics:
FKBP6 is a 327 amino acid protein that, like other PPIases, accelerate the folding of proteins. As a component in synaptonemal complexes, FKBP6 is involved in homologous chromosomes pairing and male infertility in mice. There has been some suggestion that FKBP6 may play a role in modifying the susceptibility to idiopathic spermatogenic impairment in humans. Ubiquitously expressed in all tissues, FKBP6 is present at highest levels in testis, liver, kidney, skeletal muscle and heart. The gene encoding FKBP6 maps within a region of human chromosome 7 that has been implicated in Williams-Beuren syndrome, a rare developmental disorder involving abnormalities of the cardiovascular and musculoskeletal systems. Hemizygous deletion of FKBP6 may contribute to hypercalcemia and growth delay in Williams-Beuren syndrome.
Synonyms: 36 kDa FK506 binding protein, 36 kDa FK506-binding protein, 36 kDa FKBP, EC 5.2.1.8, FK506 binding protein 6, FK506-binding protein 6, FKBP 36, FKBP-36, FKBP-6, FKBP36, fkbp6, FKBP6_HUMAN, Immunophilin FKBP36, Peptidyl prolyl cis trans isomerase, Peptidyl-prolyl cis-trans isomerase FKBP6, PPIase, PPIase FKBP6, Rotamase.
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]