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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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COQ3
coenzyme Q3, methyltransferase
Chromosome 6 · 6q16.2
NCBI Gene: 51805Ensembl: ENSG00000132423.13HGNC: HGNC:18175UniProt: Q9NZJ6
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingO-methyltransferase activitypolyprenyldihydroxybenzoate methyltransferase activity3-demethylubiquinol 3-O-methyltransferase activityneurodegenerative diseaselysosomal storage diseaseBenign Thyroid Gland Neoplasmalcohol drinking
✦AI Summary

COQ3 encodes an O-methyltransferase essential for coenzyme Q (ubiquinone) biosynthesis, catalyzing two non-consecutive methylation steps in the pathway 1. The enzyme first methylates 3,4-dihydroxy-5-polyprenylbenzoic acid to form 4-hydroxy-3-methoxy-5-polyprenylbenzoic acid, and also performs the final step by converting 3-demethylubiquinone to ubiquinone 1. COQ3 is ubiquitously expressed across tissues, with highest levels in testis, heart, and skeletal muscle 2. The protein functions as a membrane-binding enzyme with specific affinity for cardiolipin-enriched mitochondrial membranes, facilitated by a unique structural insertion required for membrane association 3. COQ3 exists in multiple protein complexes within mitochondria and plays a critical role in maintaining coenzyme Q stability 4. Mutations in COQ3 are associated with primary coenzyme Q deficiency syndrome, a mitochondrial disorder with diverse clinical manifestations 5. Knockdown studies demonstrate that COQ3 depletion significantly reduces coenzyme Q levels and can cause developmental lethality, indicating its essential role in cellular bioenergetics 6. The protein's critical function in maintaining mitochondrial respiratory chain activity makes it a potential therapeutic target for coenzyme Q deficiency disorders 4.

Sources cited
1
COQ3 encodes an O-methyltransferase that catalyzes two methylation steps in ubiquinone biosynthesis
PMID: 10777520
2
COQ3 is ubiquitously expressed with highest levels in testis, heart, and skeletal muscle
PMID: 8053692
3
COQ3 is a membrane-binding protein with specific affinity for cardiolipin-enriched mitochondrial membranes
PMID: 26251450
4
COQ3 exists in protein complexes and is essential for maintaining coenzyme Q stability
PMID: 32194061
5
Mutations in COQ3 are associated with primary coenzyme Q deficiency syndrome
PMID: 36552517
6
COQ3 knockdown reduces coenzyme Q levels and can cause developmental lethality
PMID: 39864756
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
lysosomal storage diseaseOpen Targets
0.28Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.26Weak
alcohol drinkingOpen Targets
0.08Suggestive
glomerulonephritisOpen Targets
0.06Suggestive
infectious meningitisOpen Targets
0.06Suggestive
protozoa infectious diseaseOpen Targets
0.05Suggestive
hypotensionOpen Targets
0.04Suggestive
Peyronie diseaseOpen Targets
0.04Suggestive
eye diseaseOpen Targets
0.04Suggestive
acquired thrombocytopeniaOpen Targets
0.04Suggestive
duodenitisOpen Targets
0.04Suggestive
endocrine neoplasmOpen Targets
0.03Suggestive
Abruptio PlacentaeOpen Targets
0.03Suggestive
insomniaOpen Targets
0.03Suggestive
device complicationOpen Targets
0.03Suggestive
bronchiectasisOpen Targets
0.02Suggestive
drug allergyOpen Targets
0.02Suggestive
skin diseaseOpen Targets
0.02Suggestive
smoking initiationOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COQ7Protein interaction100%COQ5Protein interaction87%TGDSProtein interaction85%ADCK2Protein interaction84%PDSS2Protein interaction84%ADCK1Protein interaction83%
Tissue Expression6 tissues
Heart
100%
Brain
42%
Liver
38%
Ovary
21%
Bone Marrow
12%
Lung
12%
Gene Interaction Network
Click a node to explore
COQ3COQ7COQ5TGDSADCK2PDSS2ADCK1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NZJ6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.48–1.04]
RankingsWhere COQ3 stands among ~20K protein-coding genes
  • #11,689of 20,598
    Most Researched31
  • #10,436of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedCOQ3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Isolation and functional expression of human COQ3, a gene encoding a methyltransferase required for ubiquinone biosynthesis.
PMID: 10777520
J Biol Chem · 2000
1.00
2
Ubiquinone biosynthesis in eukaryotic cells: tissue distribution of mRNA encoding 3,4-dihydroxy-5-polyprenylbenzoate methyltransferase in the rat and mapping of the COQ3 gene to mouse chromosome 4.
PMID: 8053692
Arch Biochem Biophys · 1994
0.90
3
Structural and biochemical studies reveal UbiG/Coq3 as a class of novel membrane-binding proteins.
PMID: 26251450
Biochem J · 2015
0.80
4
Modelling the human coenzyme Q deficiency in Drosophila melanogaster.
PMID: 39864756
Free Radic Biol Med · 2025
0.70
5
Characterization of human mitochondrial PDSS and COQ proteins and their roles in maintaining coenzyme Q
PMID: 32194061
Biochim Biophys Acta Bioenerg · 2020
0.60