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GeneE
10 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.
DHODH
dihydroorotate dehydrogenase (quinone)
Chromosome 16 Β· 16q22.2
NCBI Gene: 1723Ensembl: ENSG00000102967.13HGNC: HGNC:2867UniProt: Q02127
63PubMed Papers
21Diseases
6Drugs
11Pathogenic Variants
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
dihydroorotate dehydrogenase (quinone) activityprotein bindingmitochondriondihydroorotate dehydrogenase activitypostaxial acrofacial dysostosisrheumatoid arthritismultiple sclerosispsoriatic arthritis
✦AI Summary

DHODH catalyzes the conversion of dihydroorotate to orotate using quinone as an electron acceptor, serving as the fourth enzymatic step in de novo pyrimidine biosynthesis 1. Located on the mitochondrial inner membrane, DHODH requires ubiquinone as its electron acceptor, linking pyrimidine metabolism directly to mitochondrial electron transport chain function 23. Beyond its canonical biosynthetic role, DHODH functions as a critical ferroptosis suppressor by reducing ubiquinone to ubiquinol, a lipid-soluble antioxidant that prevents mitochondrial lipid peroxidation independent of cytosolic antioxidant systems 45. DHODH also regulates tumor immunosuppression through O-GlcNAcylation of neuropilin-1, driving macropinocytosis and repressing MHC class II expression 6. DHODH inhibition emerges as a cancer-selective therapeutic strategy: in MYC-amplified medulloblastoma, DHODH inhibition induces pyrimidine starvation, c-Myc degradation, and apoptosis 1. In glioblastoma, DHODH stabilization confers ferroptosis and temozolomide resistance 7. Conversely, elevated DHODH-mediated orotic acid production exacerbates liver fibrosis in metabolic-associated steatohepatitis 8. These findings establish DHODH as a metabolic hub regulating cell death, immune evasion, and tissue pathology, with significant therapeutic potential across oncology and metabolic disease.

Sources cited
1
DHODH catalyzes the conversion of dihydroorotate to orotate using quinone as an electron acceptor, serving as the fourth enzymatic step in de novo pyrimidine biosynthesis .
PMID: 36368321
2
DHODH also regulates tumor immunosuppression through O-GlcNAcylation of neuropilin-1, driving macropinocytosis and repressing MHC class II expression .
PMID: 40816268
3
In glioblastoma, DHODH stabilization confers ferroptosis and temozolomide resistance .
PMID: 38838551
4
Conversely, elevated DHODH-mediated orotic acid production exacerbates liver fibrosis in metabolic-associated steatohepatitis .
PMID: 40784490
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
postaxial acrofacial dysostosisOpen Targets
0.83Strong
rheumatoid arthritisOpen Targets
0.60Moderate
multiple sclerosisOpen Targets
0.59Moderate
psoriatic arthritisOpen Targets
0.52Moderate
relapsing-remitting multiple sclerosisOpen Targets
0.50Moderate
arthritisOpen Targets
0.37Weak
familial hyperlipidemiaOpen Targets
0.37Weak
coronary artery diseaseOpen Targets
0.35Weak
COVID-19Open Targets
0.33Weak
Ischemic strokeOpen Targets
0.31Weak
Central Nervous System NeoplasmOpen Targets
0.28Weak
metabolic diseaseOpen Targets
0.26Weak
Myasthenia gravisOpen Targets
0.26Weak
percutaneous transluminal coronary angioplastyOpen Targets
0.24Weak
lupus nephritisOpen Targets
0.22Weak
HypercholesterolemiaOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
Abnormality of the skeletal systemOpen Targets
0.19Weak
osteoarthritis, hipOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.12Weak
Postaxial acrofacial dysostosisUniProt
Pathogenic Variants11
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)Pathogenic
Miller syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 346
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)Pathogenic
Miller syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 135
NM_001361.5(DHODH):c.248_261del (p.Leu83fs)Pathogenic
not provided|Miller syndrome|DHODH-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 83
NM_001361.5(DHODH):c.953A>G (p.Glu318Gly)Likely pathogenic
Miller syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 318
NM_001361.5(DHODH):c.574G>T (p.Glu192Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 192
NM_001361.5(DHODH):c.31_46del (p.Gln11fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 11
NM_001361.5(DHODH):c.952G>T (p.Glu318Ter)Likely pathogenic
Miller syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 318
NM_001361.5(DHODH):c.595C>T (p.Arg199Cys)Pathogenic
Miller syndrome
β˜†β˜†β˜†β˜†2010β†’ Residue 199
NM_001361.5(DHODH):c.611del (p.Leu204fs)Pathogenic
Miller syndrome
β˜†β˜†β˜†β˜†2010β†’ Residue 204
NM_001361.5(DHODH):c.605G>A (p.Gly202Asp)Pathogenic
Miller syndrome
β˜†β˜†β˜†β˜†2010β†’ Residue 202
NM_001361.5(DHODH):c.605G>C (p.Gly202Ala)Pathogenic
Miller syndrome
β˜†β˜†β˜†β˜†2010β†’ Residue 202
View on ClinVar β†—
Drug Targets6
ASLAN-003Phase II
Dihydroorotate dehydrogenase inhibitor
acute myeloid leukemia
BREQUINARPhase II
Dihydroorotate dehydrogenase inhibitor
EMVODODSTATPhase II
Dihydroorotate dehydrogenase inhibitor
rheumatoid arthritis
LEFLUNOMIDEApproved
Dihydroorotate dehydrogenase inhibitor
TERIFLUNOMIDEApproved
Dihydroorotate dehydrogenase inhibitor
multiple sclerosis
VIDOFLUDIMUSPhase III
Dihydroorotate dehydrogenase inhibitor
multiple sclerosis
Related Genes
GMPSProtein interaction94%CYB5R4Protein interaction94%CYB5RLProtein interaction93%CYB5R1Protein interaction92%CYB5R2Protein interaction92%CYB5R3Protein interaction91%
Tissue Expression6 tissues
Liver
100%
Ovary
8%
Heart
7%
Lung
5%
Bone Marrow
4%
Brain
2%
Gene Interaction Network
Click a node to explore
DHODHGMPSCYB5R4CYB5RLCYB5R1CYB5R2CYB5R3
PROTEIN STRUCTURE
Preparing viewer…
PDB4OQV Β· 1.23 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.03LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.57–1.03]
RankingsWhere DHODH stands among ~20K protein-coding genes
  • #7,355of 20,598
    Most Researched63
  • #637of 1,025
    FDA-Approved Drug Targets2
  • #2,773of 5,498
    Most Pathogenic Variants11
  • #10,258of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedDHODH
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
DHODH-mediated ferroptosis defence is a targetable vulnerability in cancer.
PMID: 33981038
Nature Β· 2021
1.00
2
Inhibition of tumor cell macropinocytosis driver DHODH reverses immunosuppression and overcomes anti-PD1 resistance.
PMID: 40816268
Immunity Β· 2025
0.90
3
Cancer-selective metabolic vulnerabilities in MYC-amplified medulloblastoma.
PMID: 36368321
Cancer Cell Β· 2022
0.80
4
Mitochondrial ubiquinol oxidation is necessary for tumour growth.
PMID: 32641834
Nature Β· 2020
0.70
5
A targetable PRR11-DHODH axis drives ferroptosis- and temozolomide-resistance in glioblastoma.
PMID: 38838551
Redox Biol Β· 2024
0.60