Gene: ACE

Alternate names for this Gene: ACE1|CD143|DCP|DCP1

Gene Summary: This gene encodes an enzyme involved in in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. ACE also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored proteins in testes. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 17

Location in Chromosome : 17q23.3

Description of this Gene: angiotensin I converting enzyme

Type of Gene: protein-coding

rs797045079 in ACE gene and Allanson Pantzar McLeod syndrome PMID 22095942 2012 Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

rs4311 in ACE gene and Alzheimer's Disease PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

rs4344 in ACE gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs149155892 in ACE gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4295 in ACE gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

rs4329 in ACE gene and Glucose measurement PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.

rs28730839 in ACE gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs28730839 in ACE gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs4343 in ACE gene and Serum albumin measurement PMID 24625756 2014 Genetic determinants influencing human serum metabolome among African Americans.

PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs4291 in ACE gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs4329 in ACE gene and elevated blood glucose level PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.