COQ10A
Coenzyme Q10A, a chaperone protein essential for coenzyme Q10 biosynthesis and mitochondrial function
Gene Information Card
| Symbol | COQ10A |
|---|---|
| Full Name | Coenzyme Q10A |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 93034 ncbi.nlm.nih.gov/gene/93034 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q96MF7 |
| OMIM ID | 612362 |
| HGNC ID | 26522 |
| Aliases | COQ10, FLJ12838, MGC138290 |
Description
COQ10A encodes a protein that functions as a chaperone in the biosynthesis of coenzyme Q10 (ubiquinone), a critical component of the mitochondrial electron transport chain. The protein is localized to the mitochondria and is necessary for proper coenzyme Q10 function and stability. Mutations in COQ10A are associated with primary coenzyme Q10 deficiency, a mitochondrial disorder affecting multiple organ systems.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary coenzyme Q10 deficiency | Loss-of-function mutations impair coenzyme Q10 biosynthesis, leading to mitochondrial dysfunction | ClinVar, OMIM |
| Mitochondrial encephalopathy | Defective electron transport chain due to reduced coenzyme Q10 levels | OMIM |
| Nephrotic syndrome | Renal involvement in coenzyme Q10 deficiency | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Kidney | 6.5 | Low |
| Skeletal muscle | 5.2 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| HEK293 | 7.4 | Embryonic kidney cells |
| HepG2 | 6.1 | Liver cancer cell line |
| K562 | 3.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53*) | Nonsense | Rare | Loss of function, premature truncation |
| c.437G>A (p.Arg146Gln) | Missense | Rare | Likely damaging, reduced protein stability |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing coenzyme Q10 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)
| • Mitochondrion | • Coenzyme Q10 binding |
| • Chaperone activity | • Ubiquinone biosynthetic process |
| • Electron transport chain |
Pathways
• Coenzyme Q10 biosynthesis
• Mitochondrial electron transport chain (Complex I-III)
Protein Summary
The COQ10A protein is a 244-amino acid mitochondrial chaperone that binds coenzyme Q10 and facilitates its proper incorporation into the electron transport chain. It contains a conserved domain found in other COQ10 family members and is essential for maintaining mitochondrial respiratory function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COQ10A Knockout HEK293 Cell Line | EDJ-KQ11153 | Human | 93058 | Details Get a Quote |
| COQ10A Knockout A-549 Cell Line | EDJ-KQ39160 | Human | 93058 | Details Get a Quote |
| COQ10A Knockout HCT 116 Cell Line | EDJ-KQ39161 | Human | 93058 | Details Get a Quote |
| COQ10A Knockout HeLa Cell Line | EDJ-KQ39162 | Human | 93058 | Details Get a Quote |
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