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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CAD
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Chromosome 2 Β· 2p23.3
NCBI Gene: 790Ensembl: ENSG00000084774.14HGNC: HGNC:1424UniProt: F8VPD4
298PubMed Papers
21Diseases
0Drugs
95Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
identical protein bindingprotein binding'de novo' pyrimidine nucleobase biosynthetic processzinc ion bindingcongenital disorder of glycosylation type Iinfantile epileptic-dyskinetic encephalopathygenetic disordertype 2 diabetes mellitus
✦AI Summary

CAD is a multifunctional enzyme catalyzing the first three steps of de novo pyrimidine synthesis. The protein sequentially executes three enzymatic activities: carbamoyl-phosphate synthetase (CPSase), aspartate transcarbamylase (ATCase), and dihydroorotase (DHOase) 1. CPSase functions through a two-step mechanism involving glutamine-dependent amidotransferase activity that generates ammonia, followed by ammonium-dependent carbamoyl phosphate synthesis. The endogenously produced carbamoyl phosphate is channeled to ATCase, which catalyzes carbamoyl-L-aspartate formation from L-aspartate and carbamoyl phosphate. Finally, DHOase cyclizes carbamoyl aspartate to dihydroorotate 1. The dihydroorotase domain contains a structurally unusual active site with two zinc ions bridged by a carboxylated lysine and a third zinc coordinating a histidinate ion 1. CAD self-assembles into hexameric complexes of approximately 1.5 MDa. Upregulation of CAD is essential for cell proliferation, making it a potential antitumoral target 1. CAD mutations are associated with developmental and epileptic encephalopathy 50, indicating the clinical significance of proper pyrimidine metabolism for neurological function.

Sources cited
1
CAD is a multifunctional protein executing three sequential enzymatic activities (CPSase, ATCase, DHOase) in de novo pyrimidine biosynthesis; the dihydroorotase domain has an unusual zinc-containing active site; CAD forms hexameric complexes; upregulation is essential for cell proliferation
PMID: 24332717
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
congenital disorder of glycosylation type IOpen Targets
0.77Strong
infantile epileptic-dyskinetic encephalopathyOpen Targets
0.47Moderate
genetic disorderOpen Targets
0.19Weak
type 2 diabetes mellitusOpen Targets
0.18Weak
urolithiasisOpen Targets
0.18Weak
polycythemiaOpen Targets
0.18Weak
coronary artery disease, autosomal dominant 2Open Targets
0.17Weak
Meniere diseaseOpen Targets
0.16Weak
hair colorOpen Targets
0.15Weak
epilepsyOpen Targets
0.12Weak
Intellectual disabilityOpen Targets
0.12Weak
Abnormal facial shapeOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
infectionOpen Targets
0.07Suggestive
liver cancerOpen Targets
0.06Suggestive
head and neck squamous cell carcinomaOpen Targets
0.05Suggestive
Developmental and epileptic encephalopathy 50UniProt
Pathogenic Variants95
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln)Pathogenic
not provided|Developmental and epileptic encephalopathy, 50|Infantile epileptic dyskinetic encephalopathy
β˜…β˜…β˜†β˜†2026β†’ Residue 1810
NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter)Pathogenic
Developmental and epileptic encephalopathy, 50|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1789
NM_004341.5(CAD):c.5737dup (p.Gln1913fs)Pathogenic
not provided|Developmental and epileptic encephalopathy, 50
β˜…β˜…β˜†β˜†2024β†’ Residue 1913
NM_004341.5(CAD):c.5296_5308del (p.Phe1766fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1766
NM_004341.5(CAD):c.98T>G (p.Met33Arg)Pathogenic
Developmental and epileptic encephalopathy, 50|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 33
NM_004341.5(CAD):c.4810C>T (p.Gln1604Ter)Likely pathogenic
not provided|Developmental and epileptic encephalopathy, 50
β˜…β˜…β˜†β˜†2024β†’ Residue 1604
NM_004341.5(CAD):c.571C>T (p.Arg191Ter)Pathogenic
Developmental and epileptic encephalopathy, 50|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 191
NM_004341.5(CAD):c.1070_1071del (p.Val357fs)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 357
NM_004341.5(CAD):c.5164C>T (p.Arg1722Trp)Likely pathogenic
Infantile epileptic dyskinetic encephalopathy
β˜…β˜†β˜†β˜†2026β†’ Residue 1722
NM_004341.5(CAD):c.1843-1G>APathogenic
Developmental and epileptic encephalopathy, 50|not provided
β˜…β˜†β˜†β˜†2026
NM_004341.5(CAD):c.4396G>T (p.Gly1466Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 1466
NM_004341.5(CAD):c.5441_5442del (p.Gln1814fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 1814
NM_004341.5(CAD):c.736del (p.Arg246fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 246
NM_004341.5(CAD):c.2515C>T (p.Arg839Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 839
NM_004341.5(CAD):c.4246C>T (p.Arg1416Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1416
NM_004341.5(CAD):c.3149dup (p.Phe1051fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1051
NM_004341.5(CAD):c.6378+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_004341.5(CAD):c.10del (p.Ala3_Leu4insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 3
NM_004341.5(CAD):c.2248C>T (p.Arg750Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 750
NM_004341.5(CAD):c.3618+1delLikely pathogenic
not provided|Melanoma
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
DPYDProtein interaction100%GOT1Protein interaction98%NAGSProtein interaction98%ASLProtein interaction98%ASS1Protein interaction98%GFPT1Protein interaction97%
Tissue Expression6 tissues
Ovary
100%
Liver
75%
Bone Marrow
67%
Lung
51%
Brain
43%
Heart
30%
Gene Interaction Network
Click a node to explore
CADDPYDGOT1NAGSASLASS1GFPT1
PROTEIN STRUCTURE
Preparing viewer…
PDB9FS2 Β· 1.12 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.41Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.34 [0.28–0.41]
RankingsWhere CAD stands among ~20K protein-coding genes
  • #1,174of 20,598
    Most Researched298 Β· top 10%
  • #808of 5,498
    Most Pathogenic Variants95 Β· top quartile
  • #2,088of 17,882
    Most Constrained (LOEUF)0.41 Β· top quartile
Genes detectedCAD
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
The caspase-activated DNase promotes cellular senescence.
PMID: 38977850
EMBO J Β· 2024
1.00
2
Erosion of CAD/CAM restorative materials and human enamel: An in vitro study.
PMID: 33845297
J Mech Behav Biomed Mater Β· 2021
0.90
3
Erosion of CAD/CAM restorative materials and human enamel: An in situ/in vivo study.
PMID: 32957208
J Mech Behav Biomed Mater Β· 2020
0.80
4
Transcriptional regulation of the human CAD gene during myeloid differentiation.
PMID: 2885743
Mol Cell Biol Β· 1987
0.80
5
Impaired lymphangiogenesis in pericoronary adipose tissue correlates with diabetes-aggravated coronary atherosclerosis.
PMID: 41580761
Cardiovasc Diabetol Β· 2026
0.76