AlphaFold predicted structure
COX5A · P20674
Mean pLDDT
87.3/ 100
Confident
150 residues
Confidence breakdown
- Very high(≥ 90)69%
- Confident(70–90)7%
- Low(50–70)21%
- Very low(< 50)3%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
COX5A
Chr 15q24.2cytochrome c oxidase subunit 5A
- Aliases:
- COX-VA
- MANE:
- ENST00000322347.11
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorder with complex IV deficiency
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
neurodegenerative disease
0.54mitochondrial complex IV deficiency, nuclear type 23
0.53mitochondrial complex IV deficiency, nuclear type 20
0.50autoimmune disorder of central nervous system
0.45Isolated cytochrome C oxidase deficiency
0.37stroke disorder
0.27alcohol drinking
0.26inborn mitochondrial metabolism disorder
0.19mitochondrial disease
0.19parasitic infectious disease
0.17
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cytochrome c oxidase subunit 5A, mitochondrial
Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix
Diseases associated with COX5A
Curated MONDO disease pages that list COX5A among their top associated genes.