cox6b1
Introduction
<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">cox6b1</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>COX6B1</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>cox6b1</td>
</tr>
<tr>
<td class="label">Type</td>
<td>Gene</td>
</tr>
<tr>
<td class="label">NCBI</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/?term=COX6B1" target="_blank">Search NCBI</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">3 edges</a></td>
</tr>
</table>
Cox6B1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Overview
flowchart TD
COX6B1["COX6B1"] -->|"activates"| oxidative_phosphorylation["oxidative phosphorylation"]
COX6B1["COX6B1"] -->|"inhibits"| Xanthomonas_oryzae_pv_oryzae["Xanthomonas oryzae pv oryzae"]
style COX6B1 fill:#4fc3f7,stroke:#333,color:#000
...cox6b1
Introduction
<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">cox6b1</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>COX6B1</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>cox6b1</td>
</tr>
<tr>
<td class="label">Type</td>
<td>Gene</td>
</tr>
<tr>
<td class="label">NCBI</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/?term=COX6B1" target="_blank">Search NCBI</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">3 edges</a></td>
</tr>
</table>
Cox6B1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Overview
Mermaid diagram (expand to render)
Cytochrome c oxidase subunit 6B1 (COX6B1) is a nuclear-encoded mitochondrial protein that is a subunit of cytochrome c oxidase (complex IV). The COX6B1 gene is located on chromosome 19q13.12 and encodes a protein of 86 amino acids. COX6B1 is expressed in tissues with high oxidative metabolism and is essential for complex IV assembly and function. In [neurons](/entities/neurons), COX6B1 supports aerobic respiration and is particularly important in regions with high metabolic demand. Mutations in COX6B1 cause mitochondrial complex IV deficiency, leading to Leigh syndrome, cardiomyopathy, and sensorineural hearing loss. The subunit plays a structural role in stabilizing the COX complex and regulating its activity.
Function
Cytochrome c oxidase subunit 6B1 (COX6B1) is a subunit of mitochondrial complex IV (cytochrome c oxidase). COX6B1 is a small hydrophobic protein that plays a structural role in the assembly and function of the enzyme complex.
Complex IV Assembly
COX6B1 is essential for:
- Proper assembly of the complex
- Stabilization of subunits
- Enzyme activity
- Dimer formation
Electron Transport Chain
COX6B1 contributes to Complex IV function:
- Catalyzes oxygen reduction to water
- Couples electron transfer to proton pumping
- Maintains membrane potential
Tissue Expression
COX6B1 is expressed in:
- Heart (high)
- Skeletal muscle
- Brain
- Liver
Disease Associations
Leigh Syndrome
COX6B1 mutations cause Leigh syndrome:
- Subacute necrotizing encephalomyelopathy
- Developmental regression
- Lactic acidosis
Cardiomyopathy
COX6B1 deficiency causes:
- Hypertrophic cardiomyopathy
- Heart failure
- Exercise intolerance
Sensorineural Hearing Loss
COX6B1 variants cause hearing loss:
- Mitochondrial dysfunction in cochlea
- Progressive hearing impairment
Expression
COX6B1 expression:
- Highest in heart and muscle
- Moderate in brain
- Low in other tissues
Key Publications
- - COX6B1 mutations cause Leigh syndrome
- - COX6B1 in mitochondrial disease
Background
The study of Cox6B1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
References
[@jennions2026]: Jennions, Olsson-Engman, Visuttijai, Wiksell, Fluriach Dominguez. A novel homozygous pathogenic missense vari[^5]: Čunátová, Vrbacký, Knězů, Pecinová, Alán. The cytochrome c oxidase subunit COX6B1 is required for redox-sensitive early assembly and late stabilization of complex IV.. **. 2026.
[@kim2015]: Kim, Mori, Komatsu, Chiba, Hayashi. Upregulation of cytochrome c oxidase subunit 6b1 (Cox6b1) and formation of mitochondrial supercomplexes: implication of Cox6b1 in the effect of calorie restriction.. **. 2015.
[@abdulhag2015]: Abdulhag, Soiferman, Schueler-Furman, Miller, Shaag. Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.. **. 2015.
[@sun2025]: Sun, Liu, Li, Li, Zhang. Revealing Causal Protein Biomarkers and Potential Therapeutic Targets for Histologic-Specific Lung Cancer.. **. 2025.
See Also
- [Mitochondrial Complex IV](mechanisms/mitochondrial-complex-iv)
- [Cytochrome C Oxidase](genes/cox15)
- [Electron Transport Chain](mechanisms/electron-transport-chain)
External Links
- [NCBI Gene: COX6B1](https://www.ncbi.nlm.nih.gov/gene/1005)
- [UniProt: P12074](https://www.uniprot.org/uniprot/P12074)