COQ9 explained

Ubiquinone biosynthesis protein COQ9, mitochondrial, also known as coenzyme Q9 homolog (COQ9), is a protein that in humans is encoded by the COQ9 gene.^[1]

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.^[1]

Clinical significance

It may be associated with Coenzyme Q10 deficiency.

Further reading

• Loftus BJ, Kim UJ, Sneddon VP . Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. . Genomics . 60 . 3 . 295–308 . 1999 . 10493829 . 10.1006/geno.1999.5927 . etal.
• Stelzl U, Worm U, Lalowski M . A human protein-protein interaction network: a resource for annotating the proteome. . Cell . 122 . 6 . 957–68 . 2005 . 16169070 . 10.1016/j.cell.2005.08.029 . etal. 11858/00-001M-0000-0010-8592-0 . 8235923 . free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928. etal.
• Lamesch P, Li N, Milstein S . hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. . Genomics . 89 . 3 . 307–15 . 2007 . 17207965 . 10.1016/j.ygeno.2006.11.012 . etal. 4647941 .
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery. . Genome Res. . 6 . 9 . 791–806 . 1996 . 8889548 . 10.1101/gr.6.9.791. free .
• Otsuki T, Ota T, Nishikawa T . 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 . 2005 . 16303743 . 10.1093/dnares/12.2.117 . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241. 2002PNAS...9916899M . etal. free .
• Hendrickson SL, Lautenberger JA, Chinn LW . Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. . PLOS ONE . 5 . 9 . e12862 . 2010 . 20877624 . 10.1371/journal.pone.0012862 . 2943476. 2010PLoSO...512862H . etal. free .
• Duncan AJ, Bitner-Glindzicz M, Meunier B . 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 . 2009 . 19375058 . 10.1016/j.ajhg.2009.03.018 . 2681001. etal.
• Wiemann S, Weil B, Wellenreuther R . 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 . 2001 . 11230166 . 10.1101/gr.GR1547R . 311072. etal.
• Zhang QH, Ye M, Wu XY . 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 . 2000 . 11042152 . 10.1101/gr.140200 . 310934. etal.

Notes and References

1. Web site: Entrez Gene: coenzyme Q9 homolog (S. cerevisiae).