COQ4 Gene - Coenzyme Q4
Essential for Coenzyme Q10 Biosynthesis and Mitochondrial Function
Gene Information Card
| Symbol | COQ4 |
|---|---|
| Full Name | Coenzyme Q4 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 51117 ncbi.nlm.nih.gov/gene/51117 |
| Ensembl ID | ENSG00000167123 |
| UniProt ID | Q9Y3A0 |
| OMIM ID | 612898 |
| HGNC ID | HNC:19693 |
| Aliases | COQ10D7, CGI-92, FLJ10913, HSPC140 |
Description
The COQ4 gene encodes a protein essential for the biosynthesis of coenzyme Q10 (ubiquinone), a critical component of the mitochondrial electron transport chain. COQ4 acts as a scaffold or assembly factor in the multi-step coenzyme Q biosynthesis pathway, stabilizing the CoQ biosynthetic complex. Mutations in COQ4 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 7 (COQ10D7) | Loss-of-function mutations impair CoQ10 biosynthesis, reducing mitochondrial electron transport and ATP production | ClinVar, OMIM |
| Mitochondrial Encephalopathy | Defective CoQ10 leads to oxidative stress and neuronal damage | ClinVar |
| Nephrotic Syndrome | CoQ10 deficiency affects renal podocyte energy metabolism | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Kidney | 9.2 | Medium |
| Skeletal Muscle | 7.6 | Low |
| Brain | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | High expression |
| HeLa | 11.1 | Moderate expression |
| HepG2 | 10.5 | Moderate expression |
| K562 | 8.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.370G>A (p.Gly124Arg) | Missense | Rare | Loss of function; reduced CoQ10 levels |
| c.483_484del (p.Glu162Glyfs*13) | Frameshift | Rare | Loss of function; truncated protein |
| c.718C>T (p.Arg240*) | Nonsense | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Most COQ4 mutations are loss-of-function, reducing or abolishing CoQ10 biosynthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting the CoQ biosynthetic complex.
View complete mutation data：
Gene Ontology (GO)
| • Coenzyme Q biosynthetic process (GO:0006744) | • Mitochondrial inner membrane (GO:0005743) |
| • Ubiquinone biosynthetic process (GO:0006744) | • Protein binding (GO:0005515) |
Pathways
• Coenzyme Q (Ubiquinone) Biosynthesis (KEGG: map00130)
• Mitochondrial electron transport
• ubiquinol to cytochrome c (Reactome: R-HSA-611105)
Protein Summary
The COQ4 protein is a 265-amino acid mitochondrial inner membrane protein that functions as a scaffold in the coenzyme Q biosynthesis pathway. It interacts with other COQ proteins to form a multi-enzyme complex required for the conversion of 4-hydroxybenzoate to ubiquinone. Defects in COQ4 lead to primary CoQ10 deficiency, characterized by encephalopathy, nephropathy, and myopathy.
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