cytochrome c oxidase subunit 7A1
Annotations refreshed 9 hours ago.
Moderate Evidence (Amber)
Mitochondrial disorder with complex IV deficiency
UnknownPossible mitochondrial disorder - nuclear genes
UnknownLikely inborn error of metabolism
UnknownMitochondrial disorders
neurodegenerative disease
Alzheimer disease
Parkinson disease
lysosomal storage disease
multiple sclerosis
autoimmune disorder of central nervous system
non-small cell lung carcinoma
familial isolated dilated cardiomyopathy
Rare familial disorder with hypertrophic cardiomyopathy
hypertrophic cardiomyopathy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Cytochrome c oxidase subunit 7A1, mitochondrial
Component of the mitochondrial respiratory complex IV (CIV, also named cytochrome c oxidase complex), the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation (By similarity). The CIV complex is the component of the respiratory chain that catalyzes the reduction of oxygen to water (By similarity). Acts as an assembly factor that specifically drives the homodimerization of CIV complexes, mediating the formation of mitochondrial respiratory supercomplexes (respirasomes) containing two CIV: supercomplxes with two molecules of CIV show improved activity (By similarity). Despite being highly expressed in brown adipose tissue, not required for thermogenesis (By similarity)
COX7A1 · P24310
Mean pLDDT
88.4/ 100
Confident
79 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
