Entrez 57017 | Ensembl ENSG00000088682 | |
Aliases COQ9, C16orf49, COQ10D5, coenzyme Q9 External IDs MGI: 1915164 HomoloGene: 6477 GeneCards: COQ9 | ||
Ubiquinone biosynthesis protein COQ9, mitochondrial, also known as coenzyme Q9 homolog (COQ9), is a protein that in humans is encoded by the COQ9 gene.
Contents
Function
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.
Clinical significance
It may be associated with Coenzyme Q10 deficiency.
Model organisms
Model organisms have been used in the study of COQ9 function. A conditional knockout mouse line, called Coq9tm1a(KOMP)Wtsi 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.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty two tests were carried out on homozygous mutant mice and one significant abnormality was observed: females displayed hyperactivity in an open field test.