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This locus represents a mitochondrial ubiquinone biosynthesis gene. Additionally we are shipping COQ9 Proteins (5) and COQ9 Kits (1) and many more products for this protein.
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Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 (show Coq7 Antibodies) to enable coenzyme Q biosynthesis.
There is a homozygous stop mutation affecting a highly conserved residue of COQ9, leading to the truncation of 75 amino acids.
The presence of a truncated version of COQ9 protein in Coq9(R239X) mice destabilizes the coenzyme Q10-synthesizing multiprotein complex.
Lack of a functional Coq9 protein causes predominant encephalomyopathy and CoQ deficiency.
Although Pdss2 (show PDSS2 Antibodies) mutant mice manifest widespread CoQ(9) deficiency and mitochondrial respiratory chain abnormalities, only affected organs show increased ROS (show ROS1 Antibodies) production, oxidative stress, mitochondrial DNA depletion, and reduced citrate synthase (show CS Antibodies) activity.
This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.
ubiquinone biosynthesis protein COQ9, mitochondrial