Ubiquinone biosynthesis protein COQ9, mitochondrial (COQ9)

Ubiquinone biosynthesis protein COQ9, mitochondrial (COQ9) is a lipid-binding mitochondrial protein essential for the biosynthesis of coenzyme Q (ubiquinone), an important electron transporter in the mitochondrial respiratory chain required for aerobic cellular respiration. COQ9 directly interacts with COQ7 to facilitate an enzymatic hydroxylase step in coenzyme Q biosynthesis. Mutations in the COQ9 gene result in autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency, a rare mitochondrial disorder characterized by metabolic acidosis, encephalopathy, and multisystem organ involvement. COQ9 is therefore categorized as a potential therapeutic target, particularly in the context of rare mitochondrial disease.

Other names

Coenzyme Q9 homologC16orf49HSPC326PSEC0129DKFZP434K046COQ10D5COQ9ubiquinone biosynthesis protein COQ9, mitochondrialcoenzyme Q9 homolog

Not applicable for direct drugs; coenzyme Q10 supplementation is hypothesized to remediate deficiency by bypassing biosynthetic defects