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Official Full Name: renin
Also known as: RTD; HNFJ2; ADTKD4
This gene encodes renin, an aspartic protease secreted by the kidneys. Renin is part of the renin-angiotensin-aldosterone system involved in the regulation of blood pressure and electrolyte balance. This enzyme catalyzes the first step in the angiotensinogen activation pathway, cleavage of angiotensinogen to form angiotensin I, which is then converted to angiotensin II by angiotensin I converting enzyme. Since angiotensin II is a vasoconstrictor peptide, this cascade can lead to aldosterone release, narrowing of blood vessels, and increased blood pressure. Transcript variants encoding different protein isoforms resulting from alternative splicing and 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 hyperuricemia nephropathy, familial juvenile type 2 nephropathy, familial hypersecretinaemia, and renal tubular dysplasia.