COQ9

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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)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for COQ9
Genomic location for COQ9
Band16q21Start57,447,425 bp[1]
End57,461,270 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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]

Function[edit]

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[edit]

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

Model organisms[edit]

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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000088682 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. ^ a b c 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.
  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.
  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.

External links[edit]

Further reading[edit]

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