COQ5 Gene - Coenzyme Q5, Methyltransferase
Essential for Coenzyme Q10 Biosynthesis and Mitochondrial Function
Gene Information Card
| Symbol | COQ5 |
|---|---|
| Full Name | Coenzyme Q5, methyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 84275 ncbi.nlm.nih.gov/gene/84275 |
| Ensembl ID | ENSG00000110848 |
| UniProt ID | Q5HYK3 |
| OMIM ID | 617829 |
| HGNC ID | 18122 |
| Aliases | COQ5, CGI-10, FLJ10706, MGC138207, MGC138209 |
Description
The COQ5 gene encodes a methyltransferase enzyme involved in the biosynthesis of coenzyme Q10 (ubiquinone), a critical component of the mitochondrial electron transport chain. COQ5 catalyzes the C-methylation of 2-polyprenyl-6-methoxy-1,4-benzoquinone, a step in the CoQ10 synthesis pathway. Mutations in COQ5 cause primary coenzyme Q10 deficiency, leading to mitochondrial dysfunction and multisystem disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary coenzyme Q10 deficiency, type 9 | Loss-of-function mutations impair CoQ10 biosynthesis, reducing mitochondrial electron transport chain efficiency and ATP production. | OMIM #619028; ClinVar pathogenic variants; PMID: 28771251 |
| Mitochondrial encephalopathy | Defective CoQ10 synthesis leads to oxidative stress and neuronal energy failure. | Case reports in ClinVar; PMID: 28771251 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 8.3 | Medium |
| Liver | 6.1 | Medium |
| Kidney | 5.4 | Medium |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.6 | Cervical cancer cells |
| HepG2 | 6.3 | Hepatocellular carcinoma cells |
| K562 | 5.1 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.482G>A (p.Arg161Gln) | Missense | Rare | Reduced methyltransferase activity; associated with CoQ10 deficiency |
| c.688C>T (p.Arg230*) | Nonsense | Rare | Premature truncation; loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation; severe deficiency |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants reduce or abolish methyltransferase activity, impairing CoQ10 synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • 2-polyprenyl-6-methoxy-1 (GO:0008425) | • ubiquinone biosynthetic process (GO:0006744) |
| • mitochondrion (GO:0005739) | • protein binding (GO:0005515) |
Pathways
• Ubiquinone and other terpenoid-quinone biosynthesis (KEGG: map00130)
• Metabolic pathways (KEGG: map01100)
Protein Summary
COQ5 is a 324-amino acid methyltransferase localized to the mitochondrial matrix. It catalyzes the C-methylation of 2-polyprenyl-6-methoxy-1,4-benzoquinone, a key step in coenzyme Q10 biosynthesis. The protein contains a conserved methyltransferase domain and is essential for mitochondrial respiration and antioxidant defense.
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