COX6C: Cytochrome c Oxidase Subunit 6C
Mitochondrial Complex IV Nuclear-Encoded Subunit
Gene Information Card
| Symbol | COX6C |
|---|---|
| Full Name | Cytochrome c oxidase subunit 6C |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.2 |
| NCBI Gene ID | 1345 ncbi.nlm.nih.gov/gene/1345 |
| Ensembl ID | ENSG00000164919 |
| UniProt ID | P09669 |
| OMIM ID | 124090 |
| HGNC ID | 2285 |
| Aliases | COX6C, cytochrome c oxidase subunit VIc |
Description
COX6C encodes a nuclear-encoded subunit of cytochrome c oxidase (Complex IV), the terminal enzyme of the mitochondrial electron transport chain. This subunit is part of the catalytic core and is essential for the assembly and function of the holoenzyme, which catalyzes the reduction of oxygen to water and contributes to the proton gradient driving ATP synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Loss of COX6C function disrupts Complex IV assembly and activity, impairing oxidative phosphorylation. | ClinVar, OMIM |
| Leigh syndrome | Pathogenic variants in COX6C may contribute to mitochondrial encephalopathy with defective Complex IV. | ClinVar |
| Cardiomyopathy | Reduced COX6C expression linked to cardiac mitochondrial dysfunction in hypertrophic cardiomyopathy. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 10.8 | High |
| Liver | 6.2 | Medium |
| Brain | 5.1 | Medium |
| Kidney | 4.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.0 | Moderate expression |
| HepG2 | 8.5 | Moderate expression |
| SH-SY5Y | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.154C>T (p.Arg52Trp) | Missense | <0.01% | Likely pathogenic; may impair subunit folding and Complex IV assembly |
| c.202G>A (p.Gly68Ser) | Missense | <0.01% | Uncertain significance; reported in mitochondrial disease cohorts |
| c.3G>A (p.Met1?) | Start loss | <0.01% | Likely loss-of-function; predicted to abolish translation |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants reduce COX6C protein stability or prevent translation, leading to Complex IV deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for COX6C.
Dominant Negative (DN)
No dominant-negative mechanisms described; COX6C mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • cytochrome-c oxidase activity | • mitochondrial electron transport |
| • cytochrome c to oxygen | • mitochondrial inner membrane |
| • oxidative phosphorylation | • protein-containing complex assembly |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Electron transport chain (Reactome: R-HSA-611105)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
COX6C is a 7.6 kDa protein (75 amino acids) localized to the mitochondrial inner membrane. It is one of 13 subunits of cytochrome c oxidase, with the three largest subunits encoded by mitochondrial DNA. COX6C is required for proper assembly and stability of the holoenzyme. The protein contains a single transmembrane domain and interacts with other nuclear-encoded subunits to form the catalytic core.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX6C Knockout HEK293 Cell Line | EDJ-KQ1910 | Human | 1345 | Details Get a Quote |
| COX6C Knockout HCT 116 Cell Line | EDJ-KQ20525 | Human | 1345 | Details Get a Quote |
| COX6C Knockout HeLa Cell Line | EDJ-KQ21822 | Human | 1345 | Details Get a Quote |
| COX6C Knockout A-549 Cell Line | EDJ-KQ61430 | Human | 1345 | Details Get a Quote |
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