FKBP6

protein
Name = FK506 binding protein 6 (36kDa)
caption =


width =
HGNCid = 3722
Symbol = FKBP6
AltSymbols = FKBP36; MGC87179
EntrezGene = 8468
OMIM = 604839
RefSeq = NM_003602
UniProt = O75344
PDB =
ECnumber =
Chromosome = 7
Arm = q
Band = 11.23
LocusSupplementaryData =

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.cite journal | author=Crackower MA, Kolas NK, Noguchi J, et al. |title=Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis |journal=Science |volume=300 |issue=5623 |pages=1291-5 |year=2003 |pmid=12764197 |doi= ] Mutations in this gene have been associated with male infertility in humans.cite journal | author=Zhang W, Zhang S, Xiao C, Yang Y, Zhoucun A |title=Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men |journal= Reproduction |volume=133 |issue=2 |pages=511-6 |year=2007 |pmid=17307919 |doi= ]

FKBP6 is deleted in Williams syndrome, however this hemizygous loss of FKBP6 is not associated with infertility.cite journal | author=Metcalfe K, Simeonov E, Beckett W, Donnai D, Tassabehji M |title=Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6 |journal=Clin Dysmorphol. |volume=14 |issue=2 |pages=61-5 |year=2005 |pmid=15770126 |doi= ]

References