ACE
Chr 17ARangiotensin I converting enzyme
Also known as: ACE1, CD143, DCP, DCP1
This gene encodes angiotensin converting enzyme, a dipeptidyl carboxypeptidase that converts angiotensin I to angiotensin II and inactivates bradykinin, thereby regulating blood pressure and electrolyte balance, and also cleaves various neuropeptides involved in synaptic transmission. Mutations cause autosomal recessive renal tubular dysgenesis, a severe condition presenting in the perinatal period with oligohydramnios, intrauterine growth restriction, and neonatal anuria. The gene shows low constraint against loss-of-function variants in the general population (LOEUF 1.08).
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ACE · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Growing Up in Multifactorial Risk Conditions
ENROLLING BY INVITATIONLT4/LT3 Combination Therapy Versus LT4 Monotherapy in Patients with Autoimmune Hypothyroidism.
RECRUITINGBiomarker Driven Intensified ChemoImmunotherapy With Early CNS Prophylaxis
ACTIVE NOT RECRUITINGGenetic Association With Various Severities, Phenotypes and Endotypes of Asthma.
RECRUITINGFecal Microbiome Transplantation in Cirrhosis: Trial in Patients With Decompensated Cirrhosis
NOT YET RECRUITINGClinical Outcomes of Hemodialysis in Brazil (COHEBRA): a Prospective Cohort Study
ENROLLING BY INVITATIONPathogenesis of Chronic Kidney Disease Associated With Metabolic Dysfunction- Associated Fatty Liver Disease (MAFLD) and Treatment Response of Oral Semaglutide.
NOT YET RECRUITINGOnco Move - Improvement of Psychophysical Fitness in Adult Cancer Survivors
NOT YET RECRUITINGEpigenetic Health Benefits of Budesonide
ACTIVE NOT RECRUITINGSafety and Efficacy of ACEI in Alport Syndrome Patients With COL4A3/COL4A4/COL4A5 Variants
NOT YET RECRUITINGMechanisms and Targeted Therapy of Airway Basal Cell Dysfunction in Bronchiolitis Obliterans Syndrome
ENROLLING BY INVITATIONBradykinin-degradating Enzymes Activities in Angiotensin-Converting Enzyme Inhibitors-associated Angioedema
RECRUITINGExternal Resources
Links to major genomics databases and tools