F5

Gene Information
 
Gene Symbol
F5
 
Aliases
FVL, PCCF, RPRGL1, THPH2
 
Entrez Gene ID
 
Gene Name
Coagulation factor V (proaccelerin, labile factor)
 
Chromosomal Location
1q23
 
HGNC ID
 
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)
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0005515 Molecular function Protein binding IPI 2844223
Protein Information
 
Protein Name
Coagulation factor V light chain
 
Function
Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00754 F5_F8_type_C F5/8 type C domain
PF07732 Cu-oxidase_3 Multicopper oxidase
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Polycystic ovary syndrome (PCOS) 17454173
Recurrent pregnancy loss 14669168
   
References
 
Primary:

Polycystic ovary syndrome, the G1691A factor V Leiden mutation, and plasminogen activator inhibitor activity: associations with recurrent pregnancy loss.

Glueck Charles J, Wang Ping, Bornovali Seref, Goldenberg Naila, Sieve Luann
Cholesterol Center, Jewish Hospital, Cincinnati, OH 45229, USA.
Metabolism. 2003 Dec;52(12):1627-32.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
MTHFR, G20210A prothrombin,plasminogen activator inhibitor 4G/5G, and platelet glycoprotein PL A1A2 gene mutations 
Recurrent pregnancy loss 
G1691A Factor V Leiden 
 
Related 
 
The thrombophilic G1691A Factor V Leiden mutation is associated with RPL in women with and without PCOS; hypofibrinolysis (high PAI-Fx) is also associated with RPL in women with PCOS. 
 
PCOS 
G1.697A (F5), G20.210A (Prothrombin) 
 
Related 
1 PCOS 
This study describes the association of pseudotumor cerebri, optic nerve demyelination, PCOS, other endocrinologic abnormalities, and thrombophilia due to a factor V and prothrombin mutation 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
23683262
Correlation between thrombophilia and recurrent pregnancy loss in patients with polycystic ovary syndrome: a comparative study. 
Clinical study 
23554803, PMC3602870
Etiological risk factors for subfertility among Palestinian women in Gaza. 
Clinical study 
22452370
Association of thrombophilia and polycystic ovarian syndrome in women with history of recurrent pregnancy loss. 
Clinical study 

 

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