Ubiquinone biosynthesis monooxygenase COQ6 (COQ6)

Ubiquinone biosynthesis monooxygenase COQ6 (COQ6) is a flavin-dependent mitochondrial monooxygenase that catalyzes a critical hydroxylation step (C5-ring hydroxylation) in the biosynthetic pathway of coenzyme Q10 (ubiquinone), a key component of the mitochondrial electron transport chain and a major cellular antioxidant[1][3][4][9]. COQ6 is required for at least two steps in ubiquinone biosynthesis and acts within a multiprotein complex at the inner mitochondrial membrane[3][4]. Mutations in the COQ6 gene cause rare, inherited forms of primary coenzyme Q10 deficiency, manifesting as a spectrum of disorders that include kidney disease (steroid-resistant nephrotic syndrome), neuromuscular dysfunction (encephalopathy, ataxia), and sensorineural deafness due to impaired mitochondrial function[5][7][9]. Coenzyme Q10 deficiency caused by COQ6 mutations may be treated with oral supplementation, though effective delivery to affected tissues can be challenging[5][7]. COQ6 deficiency may be detected by decreased CoQ10 levels or identified via genetic testing.

Other names

Coenzyme Q6, monooxygenaseCOQ6Coenzyme Q10 monooxygenase 6CGI-10CGI102-methoxy-6-polyprenylphenol 4-hydroxylaseUbiquinone biosynthesis monooxygenase COQ6, mitochondrialCoenzyme Q6 homolog, monooxygenaseCOQ10D6

Restoration (replacement) of coenzyme Q10 biosynthesis; Antioxidant supplementation; Potentially substrate bypass using analogs (in yeast models).