AlphaFold predicted structure
COA6 · Q5JTJ3
Mean pLDDT
77.2/ 100
Confident
125 residues
Confidence breakdown
- Very high(≥ 90)46%
- Confident(70–90)8%
- Low(50–70)45%
- Very low(< 50)1%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
COA6
Chr 1q42.2cytochrome c oxidase assembly factor 6
- MANE:
- ENST00000366615.10
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 pseudoautosomalPaediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Disease associations (Open Targets)
fatal infantile encephalocardiomyopathy
0.71neurodegenerative disease
0.53inborn mitochondrial metabolism disorder
0.37mitochondrial disease
0.37poisoning
0.27alcohol drinking
0.26diverticular disease
0.21hereditary disease
0.19diverticulitis
0.17abdominal abscess
0.13
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cytochrome c oxidase assembly factor 6 homolog
Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis. May also be required for efficient formation of respiratory supercomplexes comprised of complexes III and IV