From Wikipedia, the free encyclopedia
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
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] 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] homozygous mutant mice and one significant abnormality was observed: females displayed hyperactivity in an open field test .[ 11]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000088682 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031782 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b "Entrez Gene: coenzyme Q9 homolog (S. cerevisiae)" .^ Online Mendelian Inheritance in Man (OMIM): 607426 ^ "Anxiety data for Coq9" . Wellcome Trust Sanger Institute.^ "Dysmorphology data for Coq9" . Wellcome Trust Sanger Institute.^ "Salmonella infection data for Coq9" . Wellcome Trust Sanger Institute.^ "Citrobacter infection data for Coq9" . Wellcome Trust Sanger Institute.^ 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 . ^ Mouse Resources Portal , Wellcome Trust Sanger Institute.^ "International Knockout Mouse Consortium" .^ "Mouse Genome Informatics" .^ 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 . ^ Dolgin E (2011). "Mouse library set to be knockout" . Nature . 474 (7351): 262–3. doi :10.1038/474262a PMID 21677718 . ^ 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 . ^ 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 . {{cite journal }}: CS1 maint: unflagged free DOI (link )
External links
Further reading
Loftus BJ, Kim UJ, Sneddon VP, et al. (1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics . 60 (3): 295–308. doi :10.1006/geno.1999.5927 . PMID 10493829 . Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell . 122 (6): 957–68. doi :10.1016/j.cell.2005.08.029 . hdl :11858/00-001M-0000-0010-8592-0 PMID 16169070 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Lamesch P, Li N, Milstein S, et al. (2007). "hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes" . Genomics . 89 (3): 307–15. doi :10.1016/j.ygeno.2006.11.012 . PMC 4647941 PMID 17207965 . Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806. doi :10.1101/gr.6.9.791 PMID 8889548 . Otsuki T, Ota T, Nishikawa T, et al. (2005). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries" . DNA Res . 12 (2): 117–26. doi :10.1093/dnares/12.2.117 PMID 16303743 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. doi :10.1073/pnas.242603899 . PMC 139241 PMID 12477932 . Hendrickson SL, Lautenberger JA, Chinn LW, et al. (2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression" . PLoS ONE . 5 (9): e12862. doi :10.1371/journal.pone.0012862 . PMC 2943476 PMID 20877624 . {{cite journal }}: CS1 maint: unflagged free DOI (link )Duncan AJ, Bitner-Glindzicz M, Meunier B, et al. (2009). "A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease" . Am. J. Hum. Genet . 84 (5): 558–66. doi :10.1016/j.ajhg.2009.03.018 . PMC 2681001 PMID 19375058 . Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs" . Genome Res . 11 (3): 422–35. doi :10.1101/gr.GR1547R . PMC 311072 PMID 11230166 . Zhang QH, Ye M, Wu XY, et al. (2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells" . Genome Res . 10 (10): 1546–60. doi :10.1101/gr.140200 . PMC 310934 PMID 11042152 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
