FK506-Binding Protein 10

Alternative Names

  • FKBP10
  • FKBP65
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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

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_021939.4:c.1016_1023dupSaudi ArabiaNC_000017.11:g.41819628_41819635dupPathogenicPathogenicOsteogenesis Imperfecta, Type XING_015860.1:g.11919_11926dup; NM_021939.4:c.1016_1023dup; NP_068758.3:p.Thr342GlyfsTer2613785388430631
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>APathogenicPathogenicOsteogenesis Imperfecta, Type XING_015860.1:g.9440G>A; NM_021939.4:c.337G>A; NP_068758.3:p.Glu113Lys39751467441473
NM_021939.4:c.354delUnited Arab EmiratesNC_000017.11:g.41817166delLikely PathogenicLikely PathogenicBruck Syndrome 1NG_015860.1:g.9457del; NM_021939.4:c.354del; NP_068758.3:p.Ile118MetfsTer41797044559191076
NM_021939.4:c.831dupSaudi Arabia; United A...NC_000017.11:g.41819313dupPathogenicLikely Pathogenic, PathogenicBruck Syndrome 1; Osteogenesis Imperfecta, Type XING_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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