FKBP10
The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase family. It is located in endoplasmic reticulum and acts as molecular chaperones. An alternatively spliced variant encoding different isoform has been found, but the biological validity of the variant is not determined. [provided by RefSeq]
Full Name
FK506 binding protein 10, 65 kDa
Function
PPIases accelerate the folding of proteins during protein synthesis.
Biological Process
Aorta morphogenesis Source: Ensembl
Collagen fibril organization Source: Ensembl
Extracellular matrix assembly Source: Ensembl
In utero embryonic development Source: Ensembl
Peptidyl-lysine hydroxylation Source: Ensembl
Peptidyl-proline modification Source: FlyBase
Wound healing Source: Ensembl
Cellular Location
Endoplasmic reticulum lumen
Involvement in disease
Osteogenesis imperfecta 11 (OI11):
A form of osteogenesis imperfecta, a connective tissue disorder 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.
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.
PTM
Glycosylated and phosphorylated.
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Datasheet