COQ2
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Template:Short description An Error has occurred retrieving Wikidata item for infobox Para-hydroxybenzoate—polyprenyltransferase, mitochondrial is an enzyme that in humans is encoded by the COQ2 gene.[1][2]
CoQ (ubiquinone) serves as a redox carrier in the mitochondrial respiratory chain and is a lipid-soluble antioxidant. COQ2, or parahydroxybenzoate-polyprenyltransferase (EC 2.5.1.39), catalyzes one of the final reactions in the biosynthesis of CoQ, the prenylation of parahydroxybenzoate with an all-trans polyprenyl group (Forsgren et al., 2004).[supplied by OMIM][2]
Role in pathology
Homozygous or compound heterozygous mutations of the COQ2 gene cause primary coenzyme Q10 deficiency 1, a mitochondrial disease.
References
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- ^ Page Module:Citation/CS1/styles.css has no content.Forsgren M, Attersand A, Lake S, Grunler J, Swiezewska E, Dallner G, Climent I (Aug 2004). "Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ". Biochem J. 382 (Pt 2): 519–26. doi:10.1042/BJ20040261. PMC 1133808. PMID 15153069.
- ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: COQ2 coenzyme Q2 homolog, prenyltransferase (yeast)".
External links
Further reading
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- Page Module:Citation/CS1/styles.css has no content.Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
- Page Module:Citation/CS1/styles.css has no content.Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Page Module:Citation/CS1/styles.css has no content.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.
- Page Module:Citation/CS1/styles.css has no content.Esaka Y, Nagahara Y, Hasome Y, et al. (2005). "Coenzyme Q2 induced p53-dependent apoptosis". Biochim. Biophys. Acta. 1724 (1–2): 49–58. doi:10.1016/j.bbagen.2005.04.013. PMID 15905035.
- Page Module:Citation/CS1/styles.css has no content.Quinzii C, Naini A, Salviati L, et al. (2007). "A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency". Am. J. Hum. Genet. 78 (2): 345–9. doi:10.1086/500092. PMC 1380241. PMID 16400613.
- Page Module:Citation/CS1/styles.css has no content.Burón MI, Hermán MD, Alcaín FJ, Villalba JM (2006). "Stimulation of polyprenyl 4-hydroxybenzoate transferase activity by sodium cholate and 3-[(cholamidopropyl)dimethylammonio]-1-propanesulfonate". Anal. Biochem. 353 (1): 15–21. doi:10.1016/j.ab.2006.03.029. PMID 16643834.
- Page Module:Citation/CS1/styles.css has no content.González-Aragón D, Burón MI, López-Lluch G, et al. (2006). "Coenzyme Q and the regulation of intracellular steady-state levels of superoxide in HL-60 cells". BioFactors. 25 (1–4): 31–41. doi:10.1002/biof.5520250105. PMID 16873928. S2CID 45053711.
- Page Module:Citation/CS1/styles.css has no content.Mollet J, Giurgea I, Schlemmer D, et al. (2007). "Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders". J. Clin. Invest. 117 (3): 765–72. doi:10.1172/JCI29089. PMC 1804361. PMID 17332895.
- Page Module:Citation/CS1/styles.css has no content.López-Martín JM, Salviati L, Trevisson E, et al. (2007). "Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis". Hum. Mol. Genet. 16 (9): 1091–7. doi:10.1093/hmg/ddm058. PMC 4345105. PMID 17374725.
- Page Module:Citation/CS1/styles.css has no content.Oh J, Ban MR, Miskie BA, et al. (2007). "Genetic determinants of statin intolerance". Lipids in Health and Disease. 6: 7. doi:10.1186/1476-511X-6-7. PMC 1832194. PMID 17376224.
- Page Module:Citation/CS1/styles.css has no content.Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, et al. (2007). "COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement". J. Am. Soc. Nephrol. 18 (10): 2773–80. doi:10.1681/ASN.2006080833. PMID 17855635.
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