FK506-Binding Protein 10

Alternative Names

FKBP10
FKBP65

Length

10,278 bases

No. of Exons

No. of isoforms

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 Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_021939.4:c.1016_1023dup	Saudi Arabia	NC_000017.11:g.41819628_41819635dup	Pathogenic	Pathogenic	Osteogenesis Imperfecta, Type XI	NG_015860.1:g.11919_11926dup; NM_021939.4:c.1016_1023dup; NP_068758.3:p.Thr342GlyfsTer26	137853884	30631
NM_021939.4:c.1034dup	Saudi Arabia	NC_000017.11:g.41819646dup		Pathogenic	Osteogenesis Imperfecta, Type XI	NG_015860.1:g.11937dup; NM_021939.4:c.1034dup; NP_068758.3:p.His346AlafsTer27	1555616685
NM_021939.4:c.337G>A	Saudi Arabia	NC_000017.11:g.41817149G>A	Pathogenic	Pathogenic	Osteogenesis Imperfecta, Type XI	NG_015860.1:g.9440G>A; NM_021939.4:c.337G>A; NP_068758.3:p.Glu113Lys	397514674	41473
NM_021939.4:c.354del	United Arab Emirates	NC_000017.11:g.41817166del	Likely Pathogenic	Likely Pathogenic	Bruck Syndrome 1	NG_015860.1:g.9457del; NM_021939.4:c.354del; NP_068758.3:p.Ile118MetfsTer41	797044559	191076
NM_021939.4:c.831dup	Saudi Arabia; United A...	NC_000017.11:g.41819313dup	Pathogenic	Likely Pathogenic, Pathogenic	Bruck Syndrome 1; Osteogenesis Imperfecta, Type XI	NG_015860.1:g.11604dup; NM_021939.4:c.831dup; NP_068758.3:p.Gly278ArgfsTer95	137853883	438659

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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.

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=FKBP10 https://www.genecards.org/cgi-bin/carddisp.pl?gene=fkbp10

Contributors

Pratibha Nair: 27.06.2022
Asha Deepthi: 25.11.2021
Ameera Balobaid: 05.06.2016

Edit History

Pratibha Nair: 28.06.2022
Pratibha Nair: 27.06.2022
Asha Deepthi: 25.11.2021
Sami Bizzari: 05.06.2016

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