LongevityMap variant
- 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
Homologs in model organisms
- Danio rerio
- F7 (1 of many)
- Danio rerio
- f7
- Mus musculus
- F7
- Rattus norvegicus
- F7
Stessman et al. (2005)
Other variants which are also part of this study