CAD
Chr 2ARcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Also known as: CDG1Z, DEE50, EIEE50, GATD4
The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
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.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Evaluating the Role of IGF-1 and S-Klotho In Plaque Phenotype and Vulnerability: the VISION Study.
ACTIVE NOT RECRUITINGExpanded Studies on the SCAPIS Stockholm Reexamination Cohort
RECRUITINGBlood Collection for Research Related to Certain Diseases Involving Blood Vessels
ENROLLING BY INVITATIONHealth Improvements by Understanding the Determinants of Residual Risk in Coronary Artery Disease and New Targets for Prevention and Treatment
RECRUITINGREGistry of Long-term AnTithrombotic TherApy-1
RECRUITINGCardiac Evaluation in Hereditary Hemorrhagic Telangiectasia
NOT YET RECRUITINGPolygenic Risk Driven Pragmatic Statin Trial for Heart Disease Prevention
ACTIVE NOT RECRUITINGNPC1L1 Gene Polymorphism and the Efficacy and Safety of Hybutimibe
NOT YET RECRUITINGLatvian Early Atherosclerosis Registry
RECRUITINGA Study to Compare Standard Chemotherapy to Therapy With CPX-351 and/or Gilteritinib for Patients With Newly Diagnosed AML With or Without FLT3 Mutations
RECRUITINGChild-Parent Familial Hypercholesterolemia Screening
RECRUITINGEpicardial Delivery of XC001 Gene Therapy to Promote Angiogenesis in CAD Patients Undergoing Treatment With CABG
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools