Gene Symbol | REN |
Entrez Gene ID | 5972 |
Full Name | renin |
Synonyms | HNFJ2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Renin catalyzes the first step in the activation pathway of angiotensinogen--a cascade that can result in aldosterone release,vasoconstriction, and increase in blood pressure. Renin, an aspartyl protease, cleaves angiotensinogen to form angiotensin I, which is converted to angiotensin II by angiotensin I converting enzyme, an important regulator of blood pressure and electrolyte balance. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause familial hyperproreninemia. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | [Hyperproreninemia] (3); Renal tubular dysgenesis, 267430 (3); Hyperuricemic nephropathy, familial juvenile 2, 613092 (3) |