COA6: Cytochrome C Oxidase Assembly Factor 6
A mitochondrial copper chaperone essential for cytochrome c oxidase (Complex IV) assembly and function
Gene Information Card
| Symbol | COA6 |
|---|---|
| Full Name | Cytochrome C Oxidase Assembly Factor 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 388753 ncbi.nlm.nih.gov/gene/388753 |
| Ensembl ID | ENSG00000188171 |
| UniProt ID | Q5JTJ3 |
| OMIM ID | 614772 |
| HGNC ID | 24079 |
| Aliases | C1orf31, COX assembly factor 6, COA6 |
Description
COA6 (Cytochrome C Oxidase Assembly Factor 6) is a mitochondrial protein that functions as a copper chaperone, essential for the biogenesis of cytochrome c oxidase (Complex IV) in the mitochondrial respiratory chain. It facilitates copper insertion into the CuA site of the COX2 subunit, a critical step for complex IV activity. Mutations in COA6 cause mitochondrial complex IV deficiency, leading to severe infantile cardioencephalomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency, nuclear type 11 (MC4DN11) | Loss-of-function mutations in COA6 impair copper delivery to COX2, disrupting cytochrome c oxidase assembly and reducing ATP production | OMIM #619065; ClinVar; PMID: 25434004 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Brain | 6.1 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 11.2 | Moderate expression |
| HepG2 | 9.8 | Moderate expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.205C>T (p.Arg69Trp) | Missense | Rare | Loss of function; disrupts copper binding and COX assembly |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; prevents translation initiation |
| c.238C>T (p.Arg80*) | Nonsense | Rare | Loss of function; premature truncation |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic COA6 mutations are loss-of-function, impairing copper chaperone activity and COX assembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • copper ion binding (GO:0005507) | • mitochondrion (GO:0005739) |
| • mitochondrial inner membrane (GO:0005743) | • mitochondrial electron transport (GO:0006123) |
| • copper chaperone activity (GO:0016531) | • mitochondrial respiratory chain complex IV assembly (GO:0033615) |
Pathways
• Mitochondrial complex IV assembly (COX assembly)
• Respiratory electron transport chain (Complex IV)
Protein Summary
COA6 is a small mitochondrial protein (11 kDa) localized to the intermembrane space. It contains a conserved Cx9C motif that binds copper ions and transfers them to the CuA site of COX2 during cytochrome c oxidase assembly. Loss of COA6 function leads to severe mitochondrial complex IV deficiency, particularly affecting high-energy tissues such as heart and muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COA6 Knockout HEK293 Cell Line | EDJ-KQ12970 | Human | 388753 | Details Get a Quote |
| COA6 Knockout A-549 Cell Line | EDJ-KQ40947 | Human | 388753 | Details Get a Quote |
| COA6 Knockout HCT 116 Cell Line | EDJ-KQ42193 | Human | 388753 | Details Get a Quote |
| COA6 Knockout HeLa Cell Line | EDJ-KQ42194 | Human | 388753 | Details Get a Quote |
