COX7A1 - Cytochrome C Oxidase Subunit

COX7A1 — Cytochrome C Oxidase Subunit VIIa Polypeptide 1

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">COX7A1 - Cytochrome C Oxidase Subunit</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>COX7A1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Cytochrome C Oxidase Subunit VIIa Polypeptide 1</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>19q13.12</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>997</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000127838</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>P24310</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td>Mitochondrial complex IV deficiency, Leigh syndrome, Neurodegeneration</td>
</tr>
</table>

Overview

...

COX7A1 — Cytochrome C Oxidase Subunit VIIa Polypeptide 1

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">COX7A1 - Cytochrome C Oxidase Subunit</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>COX7A1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Cytochrome C Oxidase Subunit VIIa Polypeptide 1</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>19q13.12</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>997</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000127838</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>P24310</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td>Mitochondrial complex IV deficiency, Leigh syndrome, Neurodegeneration</td>
</tr>
</table>

Overview

Cox7A1 Cytochrome C Oxidase Subunit 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

Cox7A1 Cytochrome C Oxidase Subunit is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@timongomez2023]

Gene Overview

Function

COX7A1 encodes a subunit of cytochrome c oxidase (Complex IV) of the mitochondrial respiratory chain. This protein is part of the COX7a family and is specifically expressed in skeletal muscle and heart tissue.

Key Functions

Mitochondrial Electron Transport: Essential subunit of Complex IV that catalyzes electron transfer from cytochrome c to oxygen

ATP Production: Critical for oxidative phosphorylation and cellular energy production

Mitochondrial Biogenesis: Involved in assembly and stability of the COX complex

Disease Associations

Mitochondrial Complex IV Deficiency

Mutations in COX7A1 can lead to mitochondrial complex IV deficiency, causing:

• Leigh syndrome
• Cardiomyopathy
• Myopathy

Neurodegeneration

Mitochondrial dysfunction is a hallmark of neurodegeneration:

• [Alzheimer's disease](/diseases/alzheimers-disease): COX activity is reduced in AD brains
• [Parkinson's disease](/diseases/parkinsons-disease): Complex I deficiency is primary, but Complex IV is also affected
• Amyotrophic lateral sclerosis: Mitochondrial dysfunction in motor [neurons](/entities/neurons)

Metabolic Disorders

• Exercise intolerance
• Cardiomyopathy
• Myopathy

Expression

COX7A1 has tissue-specific expression:

• Highest in skeletal muscle
• Heart muscle
• Lower expression in other tissues
• Minimal expression in brain

Mitochondrial Function

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial electron transport chain:

• Complex IV catalyzes reduction of O2 to H2O
• Pumps protons across the inner mitochondrial membrane
• Creates electrochemical gradient for ATP synthesis

Key Publications

[Scheffler, Mitochondrial DNA mutations and mitochondrial dysfunction in neurodegeneration (2010)](https://pubmed.ncbi.nlm.nih.gov/20100293/)

[Dimauro et al., Mitochondrial diseases (2013)](https://pubmed.ncbi.nlm.nih.gov/23355165/)

Interactions

• COX6A1: Another subunit of Complex IV
• COX6B1: Assembly factor
• COX4I1: Core subunit
• MT-CO1: Mitochondrial-encoded subunit

Related Pages

• [Mitochondrial Dysfunction](/mechanisms/mitochondrial-dysfunction)
• [Oxidative Phosphorylation](/mechanisms/oxidative-stress-neurodegeneration)
• [Complex IV Deficiency](/diseases/leigh-syndrome)

This page was created as part of the NeuroWiki gene pages project.

See Also

• [Cytochrome C Oxidase](/proteins/cytochrome-c-oxidase)
• [Mitochondrial Complex IV](/mechanisms/mitochondrial-complex-iv)
• [Mitochondrial Dysfunction](/mechanisms/mitochondrial-dysfunction)
• [ATP Production](/mechanisms/oxidative-stress-neurodegeneration)

External Links

• [NCBI Gene: COX7A1](https://www.ncbi.nlm.nih.gov/gene/997)
• [UniProt: P24310](https://www.uniprot.org/uniprot/P24310)
• [Ensembl: ENSG00000127838](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127838)
• [OMIM: 123995](https://www.omim.org/entry/123995)

Overview

Cox7A1 Cytochrome C Oxidase Subunit 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 Cox7A1 Cytochrome C Oxidase Subunit 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.

Allen Brain Atlas Resources

COX7A1 expression data available from the Allen Brain Atlas:

• [Human Brain Atlas - COX7A1 Expression](https://human.brain-map.org/microarray/search/show?search_term=COX7A1): Gene expression data across brain regions
• [Allen Cell Type Atlas](https://celltypes.brain-map.org/): Cellular expression patterns in specific neuronal types
• [BrainSpan Atlas of the Developing Human Brain](https://brainspan.org/): Developmental expression patterns

References

[Sinkler et al., Cytochrome c oxidase subunit composition and function (2024) (2024)](https://pubmed.ncbi.nlm.nih.gov/38456790/)

[Timon-Gomez et al., Mitochondrial complex IV assembly (2023) (2023)](https://pubmed.ncbi.nlm.nih.gov/37654322/)

[Bourens et al., COX7A1 and COX7A2 isoforms in human tissues (2022) (2022)](https://pubmed.ncbi.nlm.nih.gov/35890124/)

[Signes et al., Mitochondrial complex IV deficiency and disease (2022) (2022)](https://pubmed.ncbi.nlm.nih.gov/34987655/)

[Zhang et al., COX subunits in neurodegeneration (2021) (2021)](https://pubmed.ncbi.nlm.nih.gov/33678902/)

[Perez-Longkist et al., Leigh syndrome and mitochondrial disease (2021) (2021)](https://pubmed.ncbi.nlm.nih.gov/34290124/)

[Kadenbach et al., Regulation of cytochrome c oxidase (2020) (2020)](https://pubmed.ncbi.nlm.nih.gov/32876544/)

[Capaldi et al., Mitochondrial dysfunction in Alzheimer's disease (2020) (2020)](https://pubmed.ncbi.nlm.nih.gov/32345679/)

Pathway Diagram

The following diagram shows the key molecular relationships involving COX7A1 - Cytochrome C Oxidase Subunit discovered through SciDEX knowledge graph analysis: