COQ6

Identifiers

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

View/Edit Human

View/Edit Mouse

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

↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
1 2 "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 is issued from Wikipedia - version of the 5/28/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.