COQ6

Protein-coding gene in humans
COQ6
Identifiers
AliasesCOQ6, CGI10, COQ10D6, CGI-10, coenzyme Q6, monooxygenase
External IDsOMIM: 614647; MGI: 1924408; HomoloGene: 6039; GeneCards: COQ6; OMA:COQ6 - orthologs
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]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for COQ6
Genomic location for COQ6
Band12|12 D1Start84,408,431 bp[2]
End84,420,570 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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

  • proximal tubule

  • yolk sac

  • morula

  • skeletal muscle tissue

  • soleus muscle
More reference expression data
BioGPS
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
SpeciesHumanMouse
Entrez

51004

217707

Ensembl

ENSG00000119723

ENSMUSG00000021235

UniProt

Q9Y2Z9

Q8R1S0

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: 84.41 – 84.42 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

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

  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:". 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.
  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" (PDF). 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.


External links

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