ACE Gene

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.

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.

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.