FKBP6
Description
The FKBP6 (FKBP prolyl isomerase family member 6 (inactive)) is a protein-coding gene located on chromosome 7.
FKBP6 is a human gene encoding a protein homologous to FKBP immunophilins, known for binding immunosuppressants like FK506 and rapamycin. FKBP6 is essential for proper chromosome pairing during meiosis in spermatogenesis. Disruption of FKBP6 in mice leads to infertility in males but not females. A deletion in exon 8 of the FKBP6 gene has been linked to spermatogenic failure in rats. Mutations in this gene have been associated with male infertility in humans. While FKBP6 is deleted in Williams syndrome, this loss does not appear to affect fertility. FKBP6 contains 3 α-helices and 11 β-sheet strands, and, as a member of the FK506 family, it exhibits potent immunosuppressant properties, potentially aiding in the prevention of organ transplant rejection.
FKBP6 plays a vital role in spermatogenesis (PubMed:36150389). It is essential for repressing transposable elements and preventing their mobilization, which is crucial for maintaining germline integrity. This function is achieved through the piRNA metabolic process, where FKBP6 forms complexes with piRNAs and Piwi proteins. These complexes regulate the methylation and silencing of transposons during meiosis. Furthermore, FKBP6 acts as a co-chaperone, interacting with HSP90 to support the piRNA amplification process, the secondary biogenesis of piRNAs. It may also participate, along with HSP90, in removing 16-nucleotide byproducts from Piwi complexes, potentially aiding in their turnover. {ECO:0000250|UniProtKB:Q91XW8, ECO:0000269|PubMed:36150389}
FKBP6 is also known as FKBP36, SPGF77.
