AlphaFold predicted structure
COX6B1 · P14854
Mean pLDDT
95.0/ 100
Very high
86 residues
Confidence breakdown
- Very high(≥ 90)90%
- Confident(70–90)11%
- Low(50–70)0%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
COX6B1
Chr 19q13.12cytochrome c oxidase subunit 6B1
- Aliases:
- COXG
- MANE:
- ENST00000649813.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalLikely 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 pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalPaediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
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Disease associations (Open Targets)
mitochondrial complex IV deficiency, nuclear type 7
0.74Isolated cytochrome C oxidase deficiency
0.57leigh syndrome due to mitochondrial complex iv deficiency
0.57neurodegenerative disease
0.57mitochondrial disease
0.37inborn mitochondrial metabolism disorder
0.37hereditary disease
0.18Tibial aplasia - ectrodactyly
0.06Isolated anophthalmia - microphthalmia
0.06multiple epiphyseal dysplasia due to collagen 9 anomaly
0.05
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cytochrome c oxidase subunit 6B1
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