FK506-Binding Protein 10

Alternative Names

  • FKBP10
  • FKBP65

Associated Diseases

Bruck Syndrome 1
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OMIM Number

607063

NCBI Gene ID

60681

Uniprot ID

Q96AY3

Length

10,278 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Peptidyl-prolyl cis-trans isomerase FKBP10

Molecular Mass

64245 Da

Amino Acid Count

582

Genomic Location

chr17:41,812,937-41,823,214

Gene Map Locus
17q21.2

Description

The protein encoded by FKBP10 gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family.  This protein is found in the endoplasmic reticulum and acts as a molecular chaperone.  The FKBP10 protein is important for the correct processing of collagen and elastin.  Mutations that cause osteogenesis imperfecta type XI and Bruck syndrome 1 lead to the production of little to no FKBP10 protein, thereby, severely impairing collagen cross-linking.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_021939.4:c.1016_1023dupSaudi ArabiaNC_000017.11:g.41819628_41819635dupPathogenicOsteogenesis Imperfecta, Type XING_015860.1:g.11919_11926dup; NM_021939.4:c.1016_1023dup; NP_068758.3:p.Thr342GlyfsTer26137853884
NM_021939.4:c.1034dupSaudi ArabiaNC_000017.11:g.41819646dupPathogenicOsteogenesis Imperfecta, Type XING_015860.1:g.11937dup; NM_021939.4:c.1034dup; NP_068758.3:p.His346AlafsTer271555616685
NM_021939.4:c.337G>ASaudi ArabiaNC_000017.11:g.41817149G>APathogenicOsteogenesis Imperfecta, Type XING_015860.1:g.9440G>A; NM_021939.4:c.337G>A; NP_068758.3:p.Glu113Lys39751467441473
NM_021939.4:c.831dupSaudi ArabiaNC_000017.11:g.41819313dupPathogenicBruck Syndrome 1NG_015860.1:g.11604dup; NM_021939.4:c.831dup; NP_068758.3:p.Gly278ArgfsTer95137853883438659

Other Reports

Saudi Arabia

Shaheen et al., (2011) described two Saudi Arabian families with Bruck Syndrome.  There were four affected patients in these families.  Parents in both families were consanguineous.  Shaheen et al., (2011) identified a p.Gln249ThrfsX12 mutation in family 1 and a p.Gly278ArgfsX95 mutation in family 2, in the FKBP10 gene.  The authors affirm that mutations in FKBP10 gene cause Bruck Syndrome and isolated osteogenesis imperfecta. The lack of genotype-phenotype correlation warranted further studies. 

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