Function
Co-chaperone required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. 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. Acts as a co-chaperone via its interaction with HSP90 and is required for the piRNA amplification process, the secondary piRNA biogenesis. May be required together with HSP90 in removal of 16 nucleotide ping-pong by-products from Piwi complexes, possibly facilitating turnover of Piwi complexes.
Gene References into Functions
- Genome wide DNA methylation assessment approach identified novel biomarkers that differentiate between cervical cancer and normal samples. In the Validation cohort FKBP6 promoter methylation had 73% sensitivity and 80% specificity (AUC = 0.80). PMID: 24241165
- 278A polymorphism of FKBP6 gene was associated with idiopathic azoospermia, while C/T, 370G/A, 430G/C, 467T/C, 468G/A polymorphisms might be very rare in Chinese population. PMID: 15696470
- may play a role in modifying the susceptibility to idiopathic spermatogenic impairment in human; allele A of c.216C>A seems to be a protective factor for the development of male infertility PMID: 17307919
- clathrin-FKBP36-Hsp72 complexes resulting from both identified interactions are bound to the matrices of clathrin-coated vesicles in spermatocytes, which indicates a possible role of FKBP36 and Hsp72 in the disassembly of clathrin coats PMID: 18529014
- FKBP36 diminishes GAPDH activity by direct interaction and down-regulation of GAPDH PMID: 19001379
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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).
Subcellular Location
Cytoplasm, cytosol. Nucleus. Chromosome.
Protein Families
FKBP6 family
Tissue Specificity
Detected in all tissues examined, with higher expression in testis, heart, skeletal muscle, liver, and kidney.
