LongevityMap variant

Entry Details

Longevity Association: Non-significant
Population: American (Caucasian)
Study Design: G1691A SNP was examined in 2689 healthy Caucasians aged 17-39 years (n = 979; 505 males and 474 females), 40-59 years (n = 900; 526 males and 374 females), and 60-85 years (n = 810; 530 males and 280 females)
Conclusions: No statistically significant decrease in genotype or allele frequency was observed among carriers of F5

HGNC symbol: F5
Aliases: FVL; PCCF; THPH2; RPRGL1
Common name: coagulation factor V
Description: 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]
OMIM: 612309
Ensembl: ENSG00000198734
UniProt/Swiss-Prot: FA5_HUMAN
Entrez Gene: 2153
UniGene: 30054
HapMap: View on HapMap