LongevityMap variant

Entry Details

Longevity Association: Significant
Population: Brazilian of European and Japanese origin
Study Design: I/D polymorphism was examined in 834 persons aged 10-104 years
Conclusions: An association between the DD genotype and D allele and age was observed in the European group only. The ACE polymorphism-age association occurred at age >60 years in the European population with decreasing II frequency.

Identifier: I/D
In Other Studies (IDs): 6 13 18 28 37 45 53 62 63 78 85 90 98 123 130 162 222 225 228 288
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