COQ7
Coenzyme Q7, Hydroxylase
Gene Information Card
| Symbol | COQ7 |
|---|---|
| Full Name | Coenzyme Q7, Hydroxylase |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.3 |
| NCBI Gene ID | 10229 ncbi.nlm.nih.gov/gene/10229 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q99807 |
| OMIM ID | 601683 |
| HGNC ID | 2244 |
| Aliases | CAT5, CLK-1, COQ7, ETC1, MCLK1 |
Description
COQ7 encodes a hydroxylase involved in the biosynthesis of coenzyme Q10 (ubiquinone), a critical component of the mitochondrial electron transport chain. The protein catalyzes the hydroxylation of 5-demethoxyubiquinone to 5-hydroxyubiquinone, a key step in ubiquinone production. Mutations in COQ7 cause primary coenzyme Q10 deficiency, leading to mitochondrial dysfunction and multisystem disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary coenzyme Q10 deficiency 8 | Loss-of-function mutations impair ubiquinone biosynthesis, reducing mitochondrial ATP production and increasing oxidative stress. | ClinVar, OMIM #616733 |
| Mitochondrial encephalopathy | Deficient CoQ10 disrupts electron transport chain, causing neurological symptoms. | ClinVar, OMIM #601683 |
| Nephrotic syndrome | CoQ10 deficiency in renal cells leads to podocyte damage and proteinuria. | ClinVar, OMIM #616733 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Kidney | 9.2 | Medium |
| Skeletal muscle | 7.1 | Low |
| Brain | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma cell line |
| K-562 | 8.9 | Chronic myeloid leukemia cell line |
| HeLa | 7.6 | Cervical adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.332G>A (p.Arg111Gln) | Missense | Rare | Reduced hydroxylase activity, CoQ10 deficiency |
| c.482G>A (p.Arg161His) | Missense | Rare | Impaired protein stability, loss of function |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most COQ7 mutations are loss-of-function, reducing or abolishing hydroxylase activity and CoQ10 synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquinone and other terpenoid-quinone biosynthesis (KEGG: hsa00130)
• Metabolic pathways (KEGG: hsa01100)
• Mitochondrial electron transport
• CoQ10 synthesis (Reactome: R-HSA-2142753)
Protein Summary
COQ7 is a mitochondrial hydroxylase essential for the final steps of coenzyme Q10 biosynthesis. The 217-amino acid protein contains a mitochondrial targeting sequence and a conserved hydroxylase domain. It forms a complex with COQ3, COQ4, COQ5, COQ6, COQ8, and COQ9 to catalyze the conversion of 5-demethoxyubiquinone to 5-hydroxyubiquinone. Defects in COQ7 lead to reduced CoQ10 levels, mitochondrial dysfunction, and clinical phenotypes including encephalopathy, nephropathy, and myopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COQ7 Knockout HEK293 Cell Line | EDJ-KQ6966 | Human | 10229 | Details Get a Quote |
| COQ7 Knockout A-549 Cell Line | EDJ-KQ31654 | Human | 10229 | Details Get a Quote |
| COQ7 Knockout HCT 116 Cell Line | EDJ-KQ31655 | Human | 10229 | Details Get a Quote |
| COQ7 Knockout HeLa Cell Line | EDJ-KQ31656 | Human | 10229 | Details Get a Quote |
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