ACE
LOCUS ID1636
GENE_SYMBOLACE
GENE NAMEangiotensin I converting enzyme
SYNONYMNSDCP, ICH, ACE1, DCP1, CD143, MVCD3
CHROMOSOME17
HOMOLOGENE ID37351
microRNAsNANA
GENE SUMMARY
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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Genetic variants in angiotensin-converting enzyme (ACE), tumor necrosis factor-alpha (TNF-alpha) and erythropoietin (EPO) have been associated with diabetic nephropathy.25656761
Cardiovascular1. ACE inhibition reduces the development of diabetes, improves these surrogate markers, and reduces cardiovascular disease and renal disease.12818733
Retinopathy1. We conclude that ACE levels are elevated in type II diabetes, chiefly in patients with retinopathy. This finding may reflect microvascular damage caused by secretion of ACE by the vascular endothelial cells.2157294
Neuropathy1. The presence of the D allele is associated with increased risk of peripheral neuropathy in females but not in male subjects with type 2 DM, suggesting a role for the renin-angiotensin system in the development of peripheral neuropathy (PN).16949519