Ubiquinone biosynthesis protein COQ9, mitochondrial, also known as coenzyme Q9 homolog (COQ9), is a protein that in humans is encoded by the COQ9 gene.^[1]

Function [link]

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.^[1]

Clinical significance [link]

It may be associated with Coenzyme Q10 deficiency.^[2]

Model organisms [link]

Model organisms have been used in the study of COQ9 function. A conditional knockout mouse line, called Coq9^{tm1a(KOMP)Wtsi[9][10]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.^[11][12][13]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[7][14] Twenty two tests were carried out on homozygous mutant mice and one significant abnormality was observed: females displayed hyperactivity in an open field test.^[7]

References [link]

Further reading [link]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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