CAD
Chr 2ARcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
The CAD protein functions as a trifunctional enzyme catalyzing the first three steps of pyrimidine nucleotide biosynthesis (carbamoylphosphate synthetase II, aspartate transcarbamoylase, and dihydroorotase activities). Mutations cause developmental and epileptic encephalopathy 50 with autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants, indicating its critical importance for normal cellular function.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CAD · 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
CGRP Inhibition, Autonomic Function, and Migraine
RECRUITINGPrediction of Atherosclerotic Plaque Progression
ACTIVE NOT RECRUITINGThe Hong Kong Diabetes Biobank
ACTIVE NOT RECRUITINGLatvian Early Atherosclerosis Registry
RECRUITINGEffect of Glp-1 and Antidiabetic sgLT2 Agents for myoCardial infarcTion and Ultrasensitive Inflammatory Surveillance (GALACTUS Trial)
RECRUITINGRivaroxaban for Children Aged Over 2 Years With Giant Coronary Artery Aneurysms After Kawasaki Disease
RECRUITINGAdipose Tissue and Inflammation in Coronary Heart Disease
ACTIVE NOT RECRUITINGMulti-Omics-Based Novel Thrombosis and Bleeding Markers and Risk Model for CHD
RECRUITINGPositron Emission Tomography to Assess the Effect of Camzyos on Ischaemia in HOCM: PEACH Trial
NOT YET RECRUITINGEvaluating the Role of IGF-1 and S-Klotho In Plaque Phenotype and Vulnerability: the VISION Study.
ACTIVE NOT RECRUITINGSHADES Mechanistic Trial
ENROLLING BY INVITATIONTesting the Use of Combination Therapy in Patients With Persistent Low Level Acute Myeloid Leukemia Following Initial Treatment, The ERASE Study (A MyeloMATCH Treatment Trial)
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools