GENE REFERENCE / HGNC:2707

ACE

angiotensin I converting enzyme

protein-coding gene17q23.3Gene information

What does this gene do?

The ACE gene provides instructions for making the angiotensin-converting enzyme. This enzyme is able to cut (cleave) proteins. It is part of the renin-angiotensin system, which regulates blood pressure and the balance of fluids and salts in the body. By cutting a protein called angiotensin I at a particular location, the angiotensin-converting enzyme converts this protein to angiotensin II. Angiotensin II causes blood vessels to narrow (constrict), which results in increased blood pressure. This protein also stimulates production of the hormone aldosterone, which triggers the absorption of salt and water by the kidneys. The increased amount of fluid in the body also increases blood pressure. Proper blood pressure during fetal growth, which delivers oxygen to the developing tissues, is required for normal development of the kidneys, particularly of structures called the proximal tubules, and other tissues. In addition, angiotensin II may play a more direct role in kidney development, perhaps by affecting growth factors involved in the development of kidney structures.

The angiotensin-converting enzyme can cleave other proteins, including bradykinin. Bradykinin causes blood vessels to widen (dilate), which decreases blood pressure. Cleavage by the angiotensin-converting enzyme inactivates bradykinin, helping to increase blood pressure.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-03-03. Source review: 2013-05.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
renal tubular dysgenesis - ACEMONDO:0700337 · Evaluated 2024-12-11	Autosomal recessive	DefinitivePrenatal Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 893
Submissions for variants in or overlapping this gene: 1,485
Submissions explicitly reporting this gene: 1,435
Alleles reported pathogenic / likely pathogenic: 69
VariationIDs with uncertain significance: 428
VariationIDs with conflicting classifications: 62

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ACE?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 69 alleles in ACE reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ACE.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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