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Target intelligence / Profile preview
Cytochrome c oxidase subunit 6B1 (COX6B1)
- Target
- COX6B1
- Molecular classification
- Enzyme, Mitochondrial respiratory chain component, Electron transport chain subunit
01
Overview
Cytochrome c oxidase subunit 6B1 (COX6B1) is a nuclear-encoded structural subunit of the cytochrome c oxidase complex (Complex IV), the last enzyme in the mitochondrial electron transport chain responsible for the reduction of oxygen to water, driving oxidative phosphorylation and ATP production[1][3][4]. COX6B1 is primarily involved in stabilization and assembly of the cytochrome c oxidase supercomplexes, facilitating efficient electron transfer and energy production, and regulating reactive oxygen species generation[2]. Mutations in COX6B1 are associated with severe infantile encephalomyopathy and mitochondrial complex IV deficiency, indicating its crucial role in cellular respiration and mitochondrial function[1][2].
- Other names
- COX6B1COX6BCOX VIb-1COXGCytochrome c oxidase subunit VIb isoform 1COXVIb1MC4DN7cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
02
Biological functions
Electron transportOxidative phosphorylationMitochondrial supercomplex assemblyATP production
03
Disease associations
Mitochondrial complex IV deficiency (types 1 and 7)Infantile encephalomyopathy
04
Safety considerations
Mutations result in severe mitochondrial dysfunction and infantile encephalomyopathy[1][2]
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