COQ6

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COQ6
Identifiers
AliasesCOQ6, CGI10, COQ10D6, CGI-10, coenzyme Q6, monooxygenase
External IDsMGI: 1924408 HomoloGene: 6039 GeneCards: COQ6
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for COQ6
Genomic location for COQ6
Band14q24.3Start73,949,926 bp[1]
End73,963,670 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_182476
NM_182480

NM_172582

RefSeq (protein)

NP_872282
NP_872286

NP_766170

Location (UCSC)Chr 14: 73.95 – 73.96 MbChr 12: 84.36 – 84.37 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function[edit]

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[edit]

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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119723 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021235 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b "Entrez Gene: Coenzyme Q6 monooxygenase". 
  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 3083770Freely accessible. PMID 21540551. 

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


External links[edit]