LongevityMap variant

Entry Details

Longevity Association: Significant
Population: Columbian
Study Design: Polymorphisms in the ACE gene were analyzed in a sample of 538 subjects Colombian subjects (18-106 years)
Conclusions: A significant decrease in DD genotype (24 vs. 16%) was observed between young and old subject groups (mean age: 45 vs. 77 years). The ACE DD genotype and D allele decrease was significant only in women.

Identifier: I/D
In Other Studies (IDs): 6 13 18 28 37 45 53 62 63 78 85 90 98 123 126 130 162 222 228 288
Cytogenetic Location: 17q23.3
UCSC Genome Browser: View 17q23.3 on the UCSC genome browser

HGNC symbol: ACE
Aliases: DCP; ACE1; DCP1; CD143
Common name: angiotensin I converting enzyme
Description: This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010]
Other longevity studies of this gene: 32
OMIM: 106180
Ensembl: ENSG00000159640
UniProt/Swiss-Prot: ACE_HUMAN
Entrez Gene: 1636
UniGene: 298469
HapMap: View on HapMap