FKBP6
| FKBP6 | |
|---|---|
| File:3B7X.pdb.jpg Crystal structure of human FK506-Binding Protein 6.[1] | |
| Identifiers | |
| Symbol | FKBP6 |
| Alt. symbols | FKBP36; MGC87179 |
| Entrez | 8468 |
| HUGO | 3722 |
| OMIM | 604839 |
| PDB | 3B7X |
| RefSeq | NM_003602 |
| UniProt | O75344 |
| Other data | |
| Locus | Chr. 7 q11.23 |
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.[2] Mutations in this gene have been associated with male infertility in humans.[3]
FKBP6 is deleted in Williams syndrome, however this hemizygous loss of FKBP6 is not associated with infertility.[4]
FKBP6 contains 3 α-helices and 11 β-sheet strands,[1] and as a FK506-family protein, has been shown to be a potent immunosuppressant which can assist in the prevention of allograft rejections.[5]
References
- ↑ 1.0 1.1 PDB: 3B7X; "RCSB Protein Data Bank - Structure Summary for 3B7X - Crystal structure of human FK506-Binding Protein 6".
- ↑ Crackower MA, Kolas NK, Noguchi J, et al. (2003). "Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis". Science. 300 (5623): 1291–5. doi:10.1126/science.1083022. PMC 2882960. PMID 12764197.
- ↑ Zhang W, Zhang S, Xiao C, Yang Y, Zhoucun A (2007). "Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men". Reproduction. 133 (2): 511–6. doi:10.1530/REP-06-0125. PMID 17307919.
- ↑ Metcalfe K, Simeonov E, Beckett W, Donnai D, Tassabehji M (2005). "Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6". Clin Dysmorphol. 14 (2): 61–5. doi:10.1097/00019605-200504000-00002. PMID 15770126.
- ↑ Siekierka JJ, Hung SH, Poe M, Lin CS, Sigal NH (October 1989). "A cytosolic binding protein for the immunosuppressant FK506 has peptidyl-prolyl isomerase activity but is distinct from cyclophilin". Nature. 341 (6244): 755–7. doi:10.1038/341755a0. PMID 2477714.
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