COQ6

COQ6
Identifiers
Aliases	COQ6, CGI10, COQ10D6, CGI-10, coenzyme Q6, monooxygenase
External IDs	MGI: 1924408 HomoloGene: 6039 GeneCards: COQ6
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 Cellular component • mitochondrial inner membrane • Golgi apparatus • cell projection • membrane • mitochondrion Biological process • secondary metabolite biosynthetic process • oxidation-reduction 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_872282.1 NP_872286.2	NP_766170.2
Location (UCSC)	Chr 14: 73.95 – 73.96 Mb	Chr 12: 84.36 – 84.37 Mb
PubMed search	[1]	[2]
Wikidata

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Coenzyme Q6 monooxygenase is a protein that in humans is encoded by the COQ6 gene.^[3]

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.^[3]

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.^[4]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. "Entrez Gene: Coenzyme Q6 monooxygenase".
4. Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rötig A, Nürnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Müller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocaña C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nürnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F (2011). "COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness". J. Clin. Invest. 121 (5): 2013–24. doi:10.1172/JCI45693. PMC 3083770. PMID 21540551.

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