Gene Symbol | ACE |
Entrez Gene ID | 1636 |
Full Name | angiotensin I converting enzyme |
Synonyms | ACE1,CD143,DCP,DCP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | {Myocardial infarction, susceptibility to} (3); {Microvascular complications of diabetes 3}, 612624 (3); [Angiotensin I-converting enzyme, benign serum increase] (3); {SARS, progression of} (3); Renal tubular dysgenesis, 267430 (3); {Stroke, hemorrhagic}, 614519 (3) |