AlphaFold predicted structure
COQ8A · Q8NI60
Mean pLDDT
69.6/ 100
Low
647 residues
Confidence breakdown
- Very high(≥ 90)31%
- Confident(70–90)31%
- Low(50–70)8%
- Very low(< 50)30%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
COQ8A
Chr 1q42.13coenzyme Q8A
- Aliases:
- COQ8, SCAR9
- MANE:
- ENST00000366777.4
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Acute rhabdomyolysis
BIALLELIC, autosomal or pseudoautosomalAtaxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomalInherited white matter disorders
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
autosomal recessive ataxia due to ubiquinone deficiency
0.84coenzyme Q10 deficiency
0.64coenzyme Q10 deficiency, primary, 1
0.46hereditary disease
0.40cataract
0.38Abnormality of the skeletal system
0.38mitochondrial disease
0.36migraine disorder
0.34cerebellar ataxia
0.33mathematical ability
0.31
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Atypical kinase COQ8A, mitochondrial
Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:21296186, PubMed:25498144, PubMed:25540914, PubMed:27499294, PubMed:36302899, PubMed:38425362). Its substrate specificity is still unclear: may act as a protein kinase that mediates phosphorylation of COQ3 (By similarity). According to other reports, acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway, as suggested by its ability to bind coenzyme Q lipid intermediates (PubMed:25498144, PubMed:27499294). However, the small molecule kinase activity was not confirmed by another publication (By similarity). Shows an unusual selectivity for binding ADP over ATP (PubMed:25498144)