F5, Official Symbol F5provided by HGNC Official Full Name coagulation factor Vprovided by HGNC Primary source HGNC:HGNC:3542 See related Ensembl:ENSG00000198734 MIM:612309; AllianceGenome:HGNC:3542 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Expression Biased expression in liver (RPKM 48.1), placenta (RPKM 23.5) and 2 other tissues See more Orthologs mouse all