COQ9 Human

The COQ9 gene, located on chromosome 16 in humans, encodes the COQ9 protein. This protein is involved in the biosynthesis of coenzyme Q10, and mutations in this gene can lead to primary coenzyme Q10 deficiency, which is an autosomal-recessive disorder . The COQ9 protein is a lipid-binding protein that may be required to present its bound lipid to COQ7, another protein involved in the biosynthesis of coenzyme Q .

Coenzyme Q9 is essential for the proper functioning of the mitochondrial respiratory chain. It acts as an electron carrier, shuttling electrons between different complexes within the mitochondria. This process is vital for the generation of ATP through oxidative phosphorylation. Additionally, Coenzyme Q9 has antioxidant properties, protecting cells from oxidative damage by neutralizing free radicals .

Recombinant Coenzyme Q9 is produced using recombinant DNA technology, where the COQ9 gene is inserted into a suitable expression system, such as E. coli, to produce the protein in large quantities. This recombinant protein can be used for various research purposes, including studying the function of Coenzyme Q9, investigating its role in mitochondrial diseases, and developing potential therapeutic interventions .

Mutations in the COQ9 gene can lead to primary coenzyme Q10 deficiency, which manifests as a range of clinical symptoms, including muscle weakness, encephalopathy, and seizures. This deficiency can be treated with Coenzyme Q10 supplementation, which helps restore normal mitochondrial function .