COQ6, Official Symbol COQ6provided by HGNC Official Full Name coenzyme Q6, monooxygenaseprovided by HGNC Primary source HGNC:HGNC:20233 See related Ensembl:ENSG00000119723 MIM:614647; AllianceGenome:HGNC:20233 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CGI10; CGI-10; COQ10D6 Summary 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. 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. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in adrenal (RPKM 8.7), testis (RPKM 8.2) and 25 other tissues See more Orthologs mouse all