LongevityMap variant

Entry Details

Longevity Association: Non-significant
Population: Ashkenazi Jewish (Jerusalem)
Study Design: Arg/Gln R353Q SNP was examined in 224 older (>75 years) Jewish Jerusalem residents of Ashkenazi ethnicity (150 males and 74 females) and a group of 441 younger subjects (22 years)
Conclusions: There was a decrease in the percentage of the A allele in older Ashkenazi male subjects and a corresponding marked decrease (9.7-2.1%) in the percentage of AA homozygotes, though this was not significant after correcting for multiple testing

HGNC symbol: F7
Aliases: SPCA
Common name: coagulation factor VII
Description: This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]
Other longevity studies of this gene: 5
OMIM: 613878
Ensembl: ENSG00000057593
UniProt/Swiss-Prot: B4DPM2_HUMAN
Entrez Gene: 2155
UniGene: 36989
HapMap: View on HapMap