FKBP6 [SEP] found in taxon
FKBP6
FK506 binding protein 6, also known as FKBP6, is a human gene. The encoded protein shows structural homology to FKBP immunophilins, which bind to the immunosuppressants FK506 and rapamycin.
FKBP6 is essential for homologous chromosome pairing in meiosis during spermatogenesis. Targeted inactivation of FKBP6 in mice results in infertile males, but apparently normal females. Rats with spermatogenic failure at meiosis were found to have a deletion in the exon 8 portion of the FKBP6 gene. Mutations in this gene have been associated with male infertility in humans.
. This protein has been found to localize to the cytosol and mitochondria of cells. Though its exact biological function has yet to be elucidated, the centromeric location of DNAJC30 on the chromosome has led Merla et al. to postulate that it may contribute to functions such as subtle defects in cognition, transient hypercalcemia, and gastrointestinal problems experienced by Williams Beuren syndrome patients. 
Clinical Significance.
This gene is one of several contiguous genes located at 7q11.23 deleted in Williams Beuren syndrome, the others including: elastin, FKBP6, FZD9