COQ6

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)
End	73,963,670 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	84,420,570 bp
RNA expression pattern
	Top expressed in
	right adrenal cortex; ; left adrenal gland; ; left adrenal cortex; ; apex of heart; ; muscle of thigh; ; gastrocnemius muscle; ; gonad; ; right auricle; ; 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
	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
	51004
	217707
	ENSG00000119723
	ENSMUSG00000021235
	Q9Y2Z9
	Q8R1S0
	NM_182476; NM_182480
	NM_172582
	NP_872282; NP_872286
	NP_766170
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000119723 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021235 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: Coenzyme Q6 monooxygenase".
^ 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.

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000119723 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021235 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Coenzyme Q6 monooxygenase".

[pmid21540551-6] 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.

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