COQ8A Gene
Coenzyme Q8A, a key regulator of coenzyme Q10 biosynthesis
Gene Information Card
| Symbol | COQ8A |
|---|---|
| Full Name | Coenzyme Q8A |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 56997 ncbi.nlm.nih.gov/gene/56997 |
| Ensembl ID | ENSG00000163050 |
| UniProt ID | Q8NI60 |
| OMIM ID | 606980 |
| HGNC ID | 16812 |
| Aliases | ADCK3, COQ8, CABC1, ARCA2, SCAR9 |
Description
The COQ8A gene encodes a mitochondrial protein that is essential for the biosynthesis of coenzyme Q10 (ubiquinone), a critical component of the electron transport chain and a lipid-soluble antioxidant. COQ8A functions as a kinase that phosphorylates and activates COQ3, a key enzyme in the coenzyme Q biosynthetic pathway. Mutations in COQ8A cause primary coenzyme Q10 deficiency type 4 (COQ10D4), an autosomal recessive disorder characterized by cerebellar ataxia, seizures, and mitochondrial dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary coenzyme Q10 deficiency 4 (COQ10D4) | Loss-of-function mutations impair coenzyme Q10 biosynthesis, leading to mitochondrial respiratory chain dysfunction and oxidative stress. | OMIM #612016; ClinVar |
| Autosomal recessive cerebellar ataxia 2 (ARCA2) | Same mechanism as COQ10D4; cerebellar atrophy and ataxia are prominent features. | OMIM #612016; PubMed: 18321925 |
| Spinocerebellar ataxia, autosomal recessive 9 (SCAR9) | Allelic disorder with COQ10D4; characterized by progressive ataxia and coenzyme Q10 deficiency. | OMIM #612016; PubMed: 18321925 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Brain (cerebellum) | 8.9 | Medium |
| Liver | 6.3 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 8.5 | Medium expression |
| SH-SY5Y | 7.2 | Medium expression |
| HepG2 | 4.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.901C>T (p.Arg301*) | Nonsense | Rare | Loss of function; truncation of protein, leading to COQ10 deficiency. |
| c.1042C>T (p.Arg348Trp) | Missense | Rare | Impaired kinase activity; reduced coenzyme Q10 levels. |
| c.1331A>G (p.Tyr444Cys) | Missense | Rare | Decreased protein stability and function. |
Mutation functional classification
Loss of Function (LOF)
Most COQ8A mutations are loss-of-function, reducing or abolishing coenzyme Q10 biosynthesis.
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)
| • GO:0005739 (mitochondrion) | • GO:0006744 (ubiquinone biosynthetic process) |
| • GO:0016301 (kinase activity) | • GO:0016772 (transferase activity |
| • transferring phosphorus-containing groups) | • GO:0005515 (protein binding) |
Pathways
• Ubiquinone and other terpenoid-quinone biosynthesis (KEGG: hsa00130)
• Metabolic pathways (KEGG: hsa01100)
• Mitochondrial electron transport
• ubiquinol to cytochrome c (Reactome: R-HSA-611105)
Protein Summary
COQ8A is a 647-amino acid mitochondrial protein with a predicted molecular weight of 73 kDa. It contains a protein kinase-like domain that is essential for its function in coenzyme Q10 biosynthesis. The protein localizes to the inner mitochondrial membrane and interacts with other COQ proteins to form a complex required for ubiquinone production. Structural studies show that COQ8A undergoes conformational changes upon ATP binding, regulating its kinase activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COQ8A Knockout HEK293 Cell Line | EDJ-KQ3095 | Human | 56997 | Details Get a Quote |
| COQ8A Knockout A-549 Cell Line | EDJ-KQ24414 | Human | 56997 | Details Get a Quote |
| COQ8A Knockout HCT 116 Cell Line | EDJ-KQ24415 | Human | 56997 | Details Get a Quote |
| COQ8A Knockout HeLa Cell Line | EDJ-KQ24416 | Human | 56997 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
