FKBP10
Function
PPIases accelerate the folding of proteins during protein synthesis.
Involvement in disease
Osteogenesis imperfecta 11
OI11
A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI11 is an autosomal recessive form.
None
The disease is caused by variants affecting the gene represented in this entry.
Bruck syndrome 1
BRKS1
A disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Glycosylated and phosphorylated.
Cellular localization
- Endoplasmic reticulum lumen
Alternative names
FKBP65, PSEC0056, FKBP10, Peptidyl-prolyl cis-trans isomerase FKBP10, PPIase FKBP10, 65 kDa FK506-binding protein, FK506-binding protein 10, Immunophilin FKBP65, Rotamase, 65 kDa FKBP, FKBP-65, FKBP-10