Renin

Alternative Names

  • REN

Associated Diseases

Hypertension, Essential
Back to search Result
OMIM Number

179820

Gene Map Locus
1q32

Description

Renin is a protein released by the juxtaglomerular cells of the kidney. It 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 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. Renin occurs in other organs than the kidney, e.g., in the brain, where it is implicated in the regulation of numerous activities.

Molecular Genetics

The renin gene spans 12 kb of DNA and contains 8 introns. The structure of the renin gene is similar to that of pepsinogen, a closely related aspartyl protease. Thus, renin and pepsinogen probably have a common evolutionary origin.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000537.3:c.1059+83G>AUnited Arab EmiratesNC_000001.11:g.204155737C>TBenignAssociationHypertension, EssentialNG_012122.1:g.15601G>A; NM_000537.3:c.1059+83G>A; NP_000528.1:p.?23685641239591
NM_000537.3:c.98+1161A>GUnited Arab EmiratesNC_000001.11:g.204165035T>CAssociationHypertension, EssentialNG_012122.1:g.6303A>G; NM_000537.3:c.98+1161A>G10900556
© CAGS 2024. All rights reserved.