COQ9
Coenzyme Q9, a key enzyme in ubiquinone biosynthesis
Gene Information Card
| Symbol | COQ9 |
|---|---|
| Full Name | coenzyme Q9 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q21 |
| NCBI Gene ID | 57017 ncbi.nlm.nih.gov/gene/57017 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q9H0R8 |
| OMIM ID | 612837 |
| HGNC ID | 25322 |
| Aliases | C16orf49, FLJ20377 |
Description
The COQ9 gene encodes a protein essential for the biosynthesis of coenzyme Q10 (ubiquinone), a critical component of the mitochondrial electron transport chain. COQ9 is involved in the decarboxylation step of ubiquinone biosynthesis and is required for the stability and function of the COQ enzyme complex. Mutations in COQ9 cause primary coenzyme Q10 deficiency, a mitochondrial disorder affecting multiple organ systems.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary coenzyme Q10 deficiency, type 6 | Loss-of-function mutations in COQ9 impair ubiquinone synthesis, leading to mitochondrial dysfunction and oxidative stress. | ClinVar, OMIM |
| Mitochondrial encephalopathy | Deficiency of CoQ10 due to COQ9 mutations disrupts ATP production, particularly in high-energy tissues like brain and muscle. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Brain | 6.3 | Low |
| Skeletal Muscle | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocyte cell line |
| HEK 293 | 9.5 | Embryonic kidney cells |
| K-562 | 7.8 | Lymphoblastoid cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.730C>T (p.Arg244*) | Nonsense | Rare | Loss of function; truncates protein |
| c.104G>A (p.Arg35Gln) | Missense | Rare | Reduced enzyme activity |
| c.287_288delAG | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most COQ9 mutations result in loss of function, reducing ubiquinone biosynthesis.
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)
| • GO:0006744 (GO:0006744) | • GO:0030145 (GO:0030145) |
| • GO:0005739 (GO:0005739) |
Pathways
• Ubiquinone and other terpenoid-quinone biosynthesis (KEGG: hsa00130)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
COQ9 is a mitochondrial matrix protein that participates in the biosynthesis of coenzyme Q10. It interacts with other COQ proteins to form a complex that catalyzes the decarboxylation of 4-hydroxybenzoate derivatives. The protein is essential for proper electron transport chain function and cellular energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COQ9 Knockout HEK293 Cell Line | EDJ-KQ12982 | Human | 57017 | Details Get a Quote |
| COQ9 Knockout A-549 Cell Line | EDJ-KQ42216 | Human | 57017 | Details Get a Quote |
| COQ9 Knockout HCT 116 Cell Line | EDJ-KQ42217 | Human | 57017 | Details Get a Quote |
| COQ9 Knockout HeLa Cell Line | EDJ-KQ42218 | Human | 57017 | Details Get a Quote |
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