COQ6

Coenzyme Q6 monooxygenase is a protein that in humans is encoded by the COQ6 gene.^[5]

COQ6
Identifiers
Aliases	COQ6, CGI10, COQ10D6, CGI-10, coenzyme Q6, monooxygenase
External IDs	OMIM: 614647; MGI: 1924408; HomoloGene: 6039; GeneCards: COQ6; OMA:COQ6 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q24.3 Start 73,949,926 bp[1] End 73,963,670 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 D1 Start 84,408,431 bp[2] End 84,420,570 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal cortex left adrenal gland left adrenal cortex apex of heart muscle of thigh gastrocnemius muscle gonad right auricle of heart left ventricle left testis Top expressed in interventricular septum brown adipose tissue myocardium of ventricle lip spermatid muscle of thigh proximal tubule yolk sac right kidney morula More reference expression data BioGPS n/a
Gene ontology Molecular function oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen FAD binding flavin adenine dinucleotide binding monooxygenase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen protein binding Cellular component mitochondrial inner membrane Golgi apparatus cell projection membrane mitochondrion extrinsic component of mitochondrial inner membrane Biological process ubiquinone biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51004 217707 Ensembl ENSG00000119723 ENSMUSG00000021235 UniProt Q9Y2Z9 Q8R1S0 RefSeq (mRNA) NM_182476 NM_182480 NM_172582 RefSeq (protein) NP_872282 NP_872286 NP_766170 Location (UCSC) Chr 14: 73.95 – 73.96 Mb Chr 12: 84.41 – 84.42 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis.^[5]

Clinical significance

Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.^[6]