LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Italian
Study Design
The R353Q substitution polymorphism in exon 8 was examined in 124 healthy individuals over 100 years of age and 130 young, healthy individuals
Conclusions
No significant differences relative to longevity were found
Identifier
R353Q
In Other Studies (IDs)
39
Cytogenetic Location
13q34
UCSC Genome Browser
View 13q34 on the UCSC genome browser

Gene details

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
zgc:163025
Mus musculus
F7
Rattus norvegicus
F7

References

Mannucci et al. (1997)

Other variants which are also part of this study