This product is an active protein and may elicit a biological response in vivo, handle with caution.
36 kDa FK506 binding protein
36 kDa FK506-binding protein
36 kDa FKBP
FK506 binding protein 6
FK506-binding protein 6
Peptidyl prolyl cis trans isomerase
Peptidyl-prolyl cis-trans isomerase FKBP6
FunctionPPIases accelerate the folding of proteins.
Tissue specificityDetected in all tissues examined, with higher expression in testis, heart, skeletal muscle, liver, and kidney.
Involvement in diseaseNote=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.