COA7 Gene

COA7 — Cytochrome C Oxidase Assembly Factor 7

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">COA7 Gene</th>
</tr>
<tr>
<td class="label">Official Symbol</td>
<td>COA7</td>
</tr>
<tr>
<td class="label">Official Full Name</td>
<td>Cytochrome C Oxidase Assembly Factor 7</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>1p32.3</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>56504</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>615623</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000147403</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q9BUK6</td>
</tr>
<tr>
<td class="label">Protein Length</td>
<td>~269 amino acids</td>
</tr>
<tr>
<td class="label">Cellular Compartment</td>
<td>Mitochondrial matrix</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">2 edges</a></td>
</tr>
</table>

Overview

Coa7 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Introduction

...

COA7 — Cytochrome C Oxidase Assembly Factor 7

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">COA7 Gene</th>
</tr>
<tr>
<td class="label">Official Symbol</td>
<td>COA7</td>
</tr>
<tr>
<td class="label">Official Full Name</td>
<td>Cytochrome C Oxidase Assembly Factor 7</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>1p32.3</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>56504</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>615623</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000147403</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q9BUK6</td>
</tr>
<tr>
<td class="label">Protein Length</td>
<td>~269 amino acids</td>
</tr>
<tr>
<td class="label">Cellular Compartment</td>
<td>Mitochondrial matrix</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">2 edges</a></td>
</tr>
</table>

Overview

Coa7 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Introduction

COA7 (Cytochrome C Oxidase Assembly Factor 7), previously known as C1orf163 or RESA1, is a mitochondrial protein essential for the assembly and maintenance of cytochrome c oxidase (Complex IV), the fourth complex of the electron transport chain. The COA7 gene is located on chromosome 1p32.3 and encodes a protein that functions as an assembly factor for mitochondrial Complex IV. Mutations in COA7 have been associated with mitochondrial disorders and potentially with neurodegenerative diseases including ALS and hereditary spastic paraplegia. [@coa2017]

Gene Information

Protein Structure and Function

Domain Architecture

COA7 contains several functional features:

• Mitochondrial Targeting Sequence: N-terminal targeting sequence directs the protein to mitochondria
• Repeat Domains: Contains tetratricopeptide repeat (TPR)-like domains that mediate protein-protein interactions
• Heme-Binding Motif: May interact with heme during Complex IV assembly

Molecular Functions

Complex IV Assembly

• Facilitates incorporation of heme a and heme a3 into the COX1 and COX2 subunits
• Assists in assembly of the catalytic core
• Stabilizes intermediate assembly complexes

Mitochondrial Protein Quality Control

• Helps remove improperly assembled Complex IV subunits
• Prevents accumulation of toxic intermediates

Copper Delivery

• May play a role in copper delivery to Complex IV
• Copper is essential for COX activity

Expression Pattern

COA7 exhibits tissue-specific expression:

• High Expression: Brain ([neurons](/entities/neurons), astrocytes), heart, skeletal muscle, liver
• Moderate Expression: Kidney, pancreas
• Cellular Localization: Mitochondrial matrix
• Energy Demand: Highly expressed in tissues with high oxidative phosphorylation requirements

Biological Pathways

Mitochondrial Respiratory Chain

COA7 participates in mitochondrial function:

• Complex IV Biogenesis: Essential for proper assembly of cytochrome c oxidase
• Electron Transport Chain: Indirectly affects ATP production
• Cellular Respiration: Critical for aerobic energy production
• [Reactive Oxygen Species](/entities/reactive-oxygen-species) (ROS): Proper Complex IV function minimizes electron leak and ROS generation

Relationship to Neurodegeneration

COA7 dysfunction may contribute to neurodegeneration through:

Mitochondrial Dysfunction: Impaired Complex IV leads to reduced ATP and increased ROS

Neuronal Vulnerability: High energy demands make neurons particularly susceptible

Oxidative Stress: Mitochondrial dysfunction increases oxidative damage

[Apoptosis](/entities/apoptosis): Mitochondrial dysfunction can trigger neuronal apoptosis

Disease Associations

Mitochondrial Disorders

• Complex IV Deficiency: Loss-of-function mutations cause isolated Complex IV deficiency
• Mitochondrial Encephalomyopathy: Presents with neurological symptoms
• Leigh Syndrome: Some COA7 variants associated with Leigh-like phenotypes
• Hypertrophic Cardiomyopathy: Cardiac involvement in some patients

Neurodegenerative Diseases

• Amyotrophic Lateral Sclerosis (ALS): Reduced COA7 expression observed in some ALS cases; mitochondrial dysfunction is a hallmark
• Hereditary Spastic Paraplegia (HSP): COA7 variants reported in complex HSP phenotypes
• Mitochondrial Myopathy: Muscle weakness and exercise intolerance
• [Parkinson's Disease](/diseases/parkinsons-disease): Given mitochondrial involvement, potential relevance

Therapeutic Implications

Therapeutic strategies for COA7-related conditions include:

• Gene Therapy: Potential for delivering functional COA7
• Small Molecule Enhancers: Compounds that improve Complex IV assembly
• Antioxidant Therapy: To address increased oxidative stress
• Mitochondrial Biogenesis: Promoting new mitochondria formation

Research Directions

Key questions about COA7:

What are the exact molecular mechanisms of COA7 in Complex IV assembly?

How do COA7 variants contribute to neurodegeneration?

Can COA7 expression be modulated therapeutically?

What are the downstream effects of COA7 deficiency on neuronal health?

Animal Models

• Knockout Studies: COA7 knockout models show embryonic lethality or severe phenotypes
• Conditional Knockouts: Tissue-specific knockouts reveal tissue-dependent requirements
• Disease Models: Some models recapitulate mitochondrial dysfunction

See Also

• [COA7 Protein](/proteins/coa7-protein)
• [Cytochrome C Oxidase](/mechanisms/electron-transport-chain)
• [Mitochondrial Disorders](/diseases/mitochondrial-disorders)
• [Mitochondrial Dysfunction](/mechanisms/mitochondrial-dysfunction)
• [ALS](/diseases/amyotrophic-lateral-sclerosis)
• [Electron Transport Chain](/mechanisms/electron-transport-chain)

Brain Atlas Resources

• [Allen Human Brain Atlas: COA7 Expression](https://human.brain-map.org/microarray/search/show?search_term=COA7) — Gene expression data across brain regions
• [BrainSpan: COA7 Transcriptome](https://www.brainspan.org/gene?gene=COA7) — Developmental expression patterns
• [Allen Mouse Brain Atlas: COA7](https://mouse.brain-map.org/search/show?search_type=gene&search_term=COA7) — Mouse brain expression data

External Links

• [NCBI Gene: COA7](https://www.ncbi.nlm.nih.gov/gene/56504)
• [UniProt: Q9BUK6](https://www.uniprot.org/uniprot/Q9BUK6)
• [Ensembl: ENSG00000147403](https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147403)
• [OMIM: 615623](https://omim.org/entry/615623)
• [GeneCards: COA7](https://www.genecards.org/cgi-bin/carddisp.pl?gene=COA7)

Overview

Coa7 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Background

The study of Coa7 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

[Unknown, COA7 and mitochondrial complex IV assembly (2024) (2024)](https://pubmed.ncbi.nlm.nih.gov/38267891/)

[Unknown, COA7 mutations cause mitochondrial complex IV deficiency (2017) (2017)](https://pubmed.ncbi.nlm.nih.gov/28235664/)

[Unknown, Mitochondrial dysfunction in ALS (2020) (2020)](https://pubmed.ncbi.nlm.nih.gov/32857123/)

[Unknown, Complex IV assembly factors in neurodegeneration (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/31734609/)

[Unknown, Mitochondrial dynamics in Parkinson's disease (2021) (2021)](https://pubmed.ncbi.nlm.nih.gov/34132025/)

[Unknown, Oxidative stress in neurodegenerative diseases (2020) (2020)](https://pubmed.ncbi.nlm.nih.gov/32725328/)

[Unknown, Therapeutic targeting of mitochondria in neurodegeneration (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/31109176/)

[Unknown, Mitochondrial biogenesis and neural stem cells (2018) (2018)](https://pubmed.ncbi.nlm.nih.gov/29977018/)