COQ6 Gene - Coenzyme Q6 Monooxygenase
Essential for Coenzyme Q10 Biosynthesis and Mitochondrial Function
Gene Information Card
| Symbol | COQ6 |
|---|---|
| Full Name | Coenzyme Q6 Monooxygenase |
| Gene Type | Protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 51004 ncbi.nlm.nih.gov/gene/51004 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9Y2Z9 |
| OMIM ID | 614647 |
| HGNC ID | 25233 |
| Aliases | CGI-10, COQ10D6, FLJ20378 |
Description
The COQ6 gene encodes coenzyme Q6 monooxygenase, a flavin-dependent monooxygenase involved in the biosynthesis of coenzyme Q10 (ubiquinone), a critical component of the mitochondrial electron transport chain. This enzyme catalyzes the C5-hydroxylation of the quinone ring during CoQ10 synthesis. Mutations in COQ6 cause primary coenzyme Q10 deficiency, often presenting with steroid-resistant nephrotic syndrome and sensorineural hearing loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Coenzyme Q10 Deficiency, Type 6 | Loss-of-function mutations impair CoQ10 biosynthesis, leading to mitochondrial dysfunction and oxidative stress. | OMIM #614647; ClinVar |
| Steroid-Resistant Nephrotic Syndrome with Sensorineural Deafness | COQ6 mutations disrupt podocyte mitochondrial function, causing glomerular damage and hearing loss. | OMIM #614647; NCBI Gene |
| Mitochondrial Encephalopathy | Deficient CoQ10 affects ATP production in neurons, contributing to neurological symptoms. | ClinVar; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Heart | 7.1 | Medium |
| Brain | 5.6 | Low |
| Skeletal Muscle | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in embryonic kidney cells |
| HepG2 | 9.8 | Moderate expression in liver carcinoma cells |
| SH-SY5Y | 6.4 | Low expression in neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.483C>G (p.Tyr161*) | Nonsense | Rare | Loss of function; truncates protein |
| c.748G>A (p.Gly250Arg) | Missense | Rare | Impaired catalytic activity |
| c.1054C>T (p.Arg352Trp) | Missense | Rare | Reduced enzyme stability |
Mutation functional classification
Loss of Function (LOF)
Most COQ6 mutations are loss-of-function, reducing or abolishing monooxygenase activity, leading to CoQ10 deficiency.
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)
| • ubiquinol-6 oxidase activity (GO:0008121) | • mitochondrial inner membrane (GO:0005743) |
| • ubiquinone biosynthetic process (GO:0006744) | • oxidation-reduction process (GO:0055114) |
Pathways
• Ubiquinone and other terpenoid-quinone biosynthesis (KEGG: hsa00130)
• Metabolic pathways (KEGG: hsa01100)
• Mitochondrial electron transport
• CoQ10 synthesis (Reactome: R-HSA-2142753)
Protein Summary
Coenzyme Q6 monooxygenase is a 468-amino acid protein localized to the mitochondrial inner membrane. It contains a flavin adenine dinucleotide (FAD)-binding domain and catalyzes the hydroxylation of 3-hexaprenyl-4-hydroxybenzoate, a key step in CoQ10 biosynthesis. The enzyme is essential for maintaining mitochondrial respiratory chain function and cellular antioxidant defense.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COQ6 Knockout HEK293 Cell Line | EDJ-KQ10867 | Human | 51004 | Details Get a Quote |
| COQ6 Knockout HeLa Cell Line | EDJ-KQ37250 | Human | 51004 | Details Get a Quote |
| COQ6 Knockout A-549 Cell Line | EDJ-KQ38539 | Human | 51004 | Details Get a Quote |
| COQ6 Knockout HCT 116 Cell Line | EDJ-KQ38540 | Human | 51004 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
