Full Name: Angiotensin I Converting Enzyme
Genomic Location: Chromosome 17, between bases 63,477,061 and 63,498,380
Protein Size: 1306 amino acids
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.
Inhibitors of ACE are commonly used to treat hypertension and some types of renal and cardiac dysfunction. The glycosidase activity probably uses different active site residues than the metalloprotease activity.
- rs4343 is linked to ACE, it is located within the coding region of the gene.
- Population frequencies are approximately 46% for the reference allele (G) and 54% for the alternate allele (A).
- Studies suggest the A allele is associated with endurance performance while the G allele is associated with an increased cardiovascular risk when consuming bad fats.