COQ7

Chr 16p12.3

coenzyme Q7, hydroxylase

Aliases:: CLK-1, CAT5
MANE:: ENST00000321998.10

OMIM: 601683 ↗NCBI: 10229 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

COQ7 · Q99807

v62025-08-01

Predicted Aligned Error matrix for COQ7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.9/ 100

Confident

217 residues

Confidence breakdown

Very high(≥ 90)77%
Confident(70–90)3%
Low(50–70)2%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease

Disease associations (Open Targets)

primary coenzyme Q10 deficiency 8
0.72
neuronopathy, distal hereditary motor, autosomal recessive 9
0.62
distal hereditary motor neuropathy
0.37
Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease
0.37
encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
0.37
alcohol drinking
0.09
metabolic syndrome
0.07
entropion
0.06
ectropion
0.06
hereditary spastic paraplegia
0.02

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial

Catalyzes the hydroxylation of the 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone at the C6 position and participates in the biosynthesis of ubiquinone (Probable). Catalyzes the reaction through a substrate-mediated reduction pathway, whereby NADH shuttles electrons to 5-methoxy-2-methyl-3-(all-trans-decaprenyl)benzoquinone, which then transfers the electrons to the two Fe(3+) centers (PubMed:23445365). The binding of 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone (DMQn) mediates reduction of the diiron center by nicotinamide adenine dinucleotide (NADH) and initiates oxygen activation for subsequent DMQ hydroxylation (PubMed:23445365). The physiological substrates are 5-methoxy-2-methyl-3-(all-trans-nonaprenyl)benzoquinone (DMQ(9)) and 5-methoxy-2-methyl-3-(all-trans-decaprenyl)benzoquinone (DMQ(10)), however in vitro the enzyme does not have any specificity concerning the length of the polyprenyl tail, and accepts tails of various lengths with similar efficiency (PubMed:23445365, PubMed:28409910). Also has a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone-independent manner (By similarity). Plays a role in modulating mitochondrial stress responses, acting in the nucleus, perhaps via regulating gene expression, independent of its characterized mitochondrial function in ubiquinone biosynthesis (PubMed:25961505)