FKBP6
Function
Has an essential role in spermatogenesis (PubMed:36150389). It is required to repress transposable elements and prevent their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons (By similarity). Acts as a co-chaperone via its interaction with HSP90 and is required for the piRNA amplification process, the secondary piRNA biogenesis (By similarity). May be required together with HSP90 in removal of 16 nucleotide ping-pong by-products from Piwi complexes, possibly facilitating turnover of Piwi complexes (By similarity).
Involvement in disease
FKBP6 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of FKBP6 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease (PubMed:9782077). A father and son with Williams-Beuren syndrome appear to have a common heterozygous deletion that includes FKBP6 gene. However, the haploinsufficiency for FKBP6 does not appear to preclude male fertility (PubMed:15770126).
Spermatogenic failure 77
SPGF77
An autosomal recessive male infertility disorder characterized by oligozoospermia or azoospermia, and abnormally shaped spermatozoa in the semen of affected individuals. Sperm abnormalities include double and triple tails, with amorphous or fragmented and enlarged heads, as well as pinhead sperm. Testicular tissue shows arrest at the round spermatid stage.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the FKBP6 family.
Tissue Specificity
Detected in all tissues examined, with higher expression in testis, heart, skeletal muscle, liver, and kidney.
Cellular localization
- Cytoplasm
- Nucleus
- In spermatocytes, it colocalizes with PIWIL1 in large cytoplasmic granules (PubMed:36150389). Does not localize to the synaptonemal complex (PubMed:36150389).
Alternative names
FKBP36, FKBP6, Inactive peptidyl-prolyl cis-trans isomerase FKBP6, Inactive PPIase FKBP6, 36 kDa FK506-binding protein, FK506-binding protein 6, Immunophilin FKBP36, 36 kDa FKBP, FKBP-36, FKBP-6