Gene: FKBP10

Alternate names for this Gene: BRKS1|FKBP65|OI11|OI6|PPIASE|hFKBP65

Gene Summary: The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.2

Description of this Gene: FKBP prolyl isomerase 10

Type of Gene: protein-coding

rs387906960 in FKBP10 gene and Bruck syndrome 1 PMID 20839288 2011 Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.

PMID 22949511 2013 Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

rs797044852 in FKBP10 gene and Multiple congenital anomalies PMID 20362275 2010 Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

PMID 20696291 2010 FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

PMID 20839288 2011 Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.

PMID 25931047 2015 Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.

PMID 22949511 2013 Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

PMID 21567934 2011 Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.

PMID 22107750 2011 Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.

rs869025223 in FKBP10 gene and OSTEOGENESIS IMPERFECTA, TYPE XI PMID 27362741 2016 Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI.