ACE Gene

Last updated on: 02.09.2022

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The ACE gene (Angiotensin I Converting Enzyme) is a protein-coding gene located on chromosome 17q23.3. The ACE gene encodes an enzyme(agiotensin-converting enzyme -ACE) involved in the regulation of blood pressure and electrolyte balance. ACE catalyzes the conversion of angiotensin I to the physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. Angiotensin converting enzyme (ACE) also inactivates the vasodilator protein bradykinin.

General information
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Accordingly, the encoded enzyme increases blood pressure. It is the target protein for ACE inhibitors, which are often used to lower blood pressure. This enzyme also plays a role in fertility, being able to cleave and release GPI-anchored membrane proteins in sperm.

Various polymorphisms as well as mutations in this gene have been associated with a variety of diseases. ACE2 is thought to be the host cell receptor for coronaviruses.

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  1. Gribouval O et al.(2011) Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat 33:316-326.
  2. Gubler MC et al (2009) Renin-angiotensin system in kidney development: renal tubular dysgenesis. Kidney Int 77:400-406.
  3. Huang Y et al. (2014) Angiotensin-converting enzyme insertion/deletion gene polymorphisms and risk of intracerebral hemorrhage: a meta-analysis of epidemiologic studies. J Renin Angiotensin Aldosterone Syst 15:32-38.
  4. Marre M et al. (1997) Contribution of genetic polymorphism in the renin-angiotensin system to the development of renal complications in insulin-dependent diabetes: Genetique de la Nephropathie Diabetique (GENEDIAB) study group. J Clin Invest 99:1585-1595.
  5. Wolf G. Angiotensin II and tubular development. Nephrol Dial Transplant. 2002;17 Suppl 9:48-51. review.
  6. Wuyts B et al (1997) Angiotensin I-converting enzyme insertion/deletion polymorphism: clinical implications. Acta Clin Belg 52:338-49.

Outgoing links (2)

Ace; Coronaviridae;

Last updated on: 02.09.2022