COQ9

Ubiquinone biosynthesis protein COQ9, mitochondrial, also known as coenzyme Q9 homolog (COQ9), is a protein that in humans is encoded by the COQ9 gene.[5]

COQ9
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOQ9, C16orf49, COQ10D5, coenzyme Q9
External IDsOMIM: 612837 MGI: 1915164 HomoloGene: 6477 GeneCards: COQ9
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16q21Start57,447,425 bp[1]
End57,461,270 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

57017

67914

Ensembl

ENSG00000088682

ENSMUSG00000031782

UniProt

O75208

Q8K1Z0

RefSeq (mRNA)

NM_020312

NM_026452

RefSeq (protein)

NP_064708

NP_080728

Location (UCSC)Chr 16: 57.45 – 57.46 MbChr 8: 94.84 – 94.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[5]

Clinical significance

It may be associated with Coenzyme Q10 deficiency.[6]

Model organisms

Model organisms have been used in the study of COQ9 function. A conditional knockout mouse line, called Coq9tm1a(KOMP)Wtsi[13][14] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[15][16][17]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[11][18] Twenty two tests were carried out on homozygous mutant mice and one significant abnormality was observed: females displayed hyperactivity in an open field test.[11]

References

  1. GRCh38: Ensembl release 89: ENSG00000088682 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000031782 - 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. "Entrez Gene: coenzyme Q9 homolog (S. cerevisiae)".
  6. Online Mendelian Inheritance in Man (OMIM): 607426
  7. "Anxiety data for Coq9". Wellcome Trust Sanger Institute.
  8. "Dysmorphology data for Coq9". Wellcome Trust Sanger Institute.
  9. "Salmonella infection data for Coq9". Wellcome Trust Sanger Institute.
  10. "Citrobacter infection data for Coq9". Wellcome Trust Sanger Institute.
  11. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  12. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  13. "International Knockout Mouse Consortium".
  14. "Mouse Genome Informatics".
  15. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  16. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  17. Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  18. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

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


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