LongevityMap variant

Entry Details

Longevity Association: Non-significant
Population: Italian
Study Design: Polymorphic repeats in intron 7 (Short and Long alleles) were examined in 196 centenarians (143 females and 53 males) and 358 controls (196 females and 162 male; 10-85 years old)
Conclusions: No significant difference in genotypic frequencies was found between centenarians and controls

HGNC symbol: REN
Aliases: HNFJ2
Common name: renin
Description: Renin catalyzes the first step in the activation pathway of angiotensinogen--a cascade that can result in aldosterone release,vasoconstriction, and increase in blood pressure. Renin, an aspartyl protease, cleaves angiotensinogen to form angiotensin I, which is converted to angiotensin II by angiotensin I converting enzyme, an important regulator of blood pressure and electrolyte balance. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause familial hyperproreninemia. [provided by RefSeq, Jul 2008]
OMIM: 179820
Ensembl: ENSG00000143839
UniProt/Swiss-Prot: RENI_HUMAN
Entrez Gene: 5972
UniGene: 3210
HapMap: View on HapMap

De Benedictis et al. (1998)