COQ9

Ubiquinone biosynthesis protein COQ9, mitochondrial, also known as coenzyme Q9 homolog (COQ9), is a is_associated_with::protein that in humans is encoded by the COQ9 is_associated_with::gene.

Function
This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of is_associated_with::coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.

Clinical significance
It may be associated with is_associated_with::Coenzyme Q10 deficiency.

Model organisms
is_associated_with::Model organisms have been used in the study of COQ9 function. A conditional is_associated_with::knockout mouse line, called Coq9tm1a(KOMP)Wtsi was generated as part of the is_associated_with::International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Twenty two tests were carried out on is_associated_with::homozygous is_associated_with::mutant mice and one significant abnormality was observed: females displayed is_associated_with::hyperactivity in an is_associated_with::open field test.