FK506 Binding Protein 6 (FKBP6) Antibody – Rabbit Polyclonal

This gene is a member of the FK506-binding protein (Fkbp) family. The encoded protein plays a role in male-specific fertility and homologous pairing of chromosomes during meiosis. The protein may also be involved in LINE1 transposon silencing and binding to Hsp90 as a co-chaperone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]

FKBP6: PPIases accelerate the folding of proteins. 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. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Isomerase; EC 5.2.1.8

Cellular Component: endoplasmic reticulum membrane; membrane; cytoplasm; synaptonemal complex; chromosome; nucleus; cytosol

Molecular Function: FK506 binding; peptidyl-prolyl cis-trans isomerase activity; Hsp90 protein binding

Biological Process: meiosis; peptidyl-proline modification; protein peptidyl-prolyl isomerization; protein folding; meiotic cell cycle; DNA methylation during gametogenesis; spermatogenesis; RNA-mediated gene silencing; cell differentiation