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F5 coagulation factor V

Gene ID: 2153, updated on 22-Jan-2023
Gene type: protein coding
Also known as: FVL; PCCF; THPH2; RPRGL1

Summary

This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.
GeneReviews: Not available
A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
GeneReviews: Not available
A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.
GeneReviews: Not available
Budd-Chiari syndrome
MedGen: C0856761OMIM: 600880GeneReviews: Not available
See labs
Factor V deficiencySee labs
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
GeneReviews: Not available
Genetic predictors of fibrin D-dimer levels in healthy adults.
GeneReviews: Not available
Genetics of venous thrombosis: insights from a new genome wide association study.
GeneReviews: Not available
Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
GeneReviews: Not available
Ischemic stroke
MedGen: C0948008OMIM: 601367GeneReviews: Not available
See labs
Multiple loci influencing hippocampal degeneration identified by genome scan.
GeneReviews: Not available
Pregnancy loss, recurrent, susceptibility to, 1
MedGen: C3280670OMIM: 614389GeneReviews: Not available
See labs
Thrombophilia due to activated protein C resistanceSee labs

Genomic context

Location:
1q24.2
Sequence:
Chromosome: 1; NC_000001.11 (169511951..169586481, complement)
Total number of exons:
25

Links

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