Adverts

Open Access Articles- Top Results for COQ6

COQ6

Template:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/row
Identifiers
SymbolsCOQ6 ; CGI10; COQ10D6
External IDsOMIM614647 HomoloGene6039 GeneCards: COQ6 Gene
Orthologs
SpeciesHumanMouse
Entrez51004217707
EnsemblENSG00000119723ENSMUSG00000021235
UniProtQ9Y2Z9Q8R1S0
RefSeq (mRNA)NM_182476NM_172582
RefSeq (protein)NP_872282NP_766170
Location (UCSC)Chr 14:
74.42 – 74.43 Mb
Chr 12:
84.36 – 84.37 Mb
PubMed search[1][2]

Coenzyme Q6 monooxygenase is a protein that in humans is encoded by the COQ6 gene.[1]

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.[1]

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.[2]

References

  1. ^ a b "Entrez Gene: Coenzyme Q6 monooxygenase". 
  2. ^ 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. PMC 3083770. PMID 21540551. doi:10.1172/JCI45693. 

Lua error in package.lua at line 80: module 'Module:Buffer' not found. This article incorporates text from the United States National Library of Medicine, which is in the public domain.