| Attribute |
Value |
| Gene Symbol |
COX7A1 |
| Full Name |
Cytochrome C Oxidase Subunit VIIa Polypeptide 1 |
| Chromosomal Location |
19q13.12 |
| NCBI Gene ID |
997 |
| Ensembl ID |
ENSG00000127838 |
| UniProt ID |
P24310 |
| Associated Diseases |
Mitochondrial complex IV deficiency, Leigh syndrome, Neurodegeneration |
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.
- 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
Mutations in COX7A1 can lead to mitochondrial complex IV deficiency, causing:
- Leigh syndrome
- Cardiomyopathy
- Myopathy
Mitochondrial dysfunction is a hallmark of neurodegeneration:
- Alzheimer's disease: COX activity is reduced in AD brains
- Parkinson's disease: Complex I deficiency is primary, but Complex IV is also affected
- Amyotrophic lateral sclerosis: Mitochondrial dysfunction in motor neurons
- Exercise intolerance
- Cardiomyopathy
- Myopathy
COX7A1 has tissue-specific expression:
- Highest in skeletal muscle
- Heart muscle
- Lower expression in other tissues
- Minimal expression in brain
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
- Scheffler, Mitochondrial DNA mutations and mitochondrial dysfunction in neurodegeneration (2010)
- Dimauro et al., Mitochondrial diseases (2013)
- COX6A1: Another subunit of Complex IV
- COX6B1: Assembly factor
- COX4I1: Core subunit
- MT-CO1: Mitochondrial-encoded subunit
This page was created as part of the NeuroWiki gene pages project (ci015).
- Sinkler et al., Cytochrome c oxidase subunit composition and function (2024)
- Timon-Gomez et al., Mitochondrial complex IV assembly (2023)
- Bourens et al., COX7A1 and COX7A2 isoforms in human tissues (2022)
- Signes et al., Mitochondrial complex IV deficiency and disease (2022)
- Zhang et al., COX subunits in neurodegeneration (2021)
- Perez-Longkist et al., Leigh syndrome and mitochondrial disease (2021)
- Kadenbach et al., Regulation of cytochrome c oxidase (2020)
- Capaldi et al., Mitochondrial dysfunction in Alzheimer's disease (2020)