coenzyme Q2, polyprenyltransferase
Última actualización 21 Mar 2023
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El COQ2 gene provides instructions for making an enzyme that carries out one step in the production of a molecule called coenzyme Q10, which has several critical functions in cells throughout the body. In cell structures called mitochondria, coenzyme Q10 plays an essential role in a process called oxidative phosphorylation, which converts the energy from food into a form cells can use. Coenzyme Q10 is also involved in producing pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. In cell membranes, coenzyme Q10 acts as an antioxidant, protecting cells from damage caused by unstable oxygen-containing molecules (free radicals), which are byproducts of energy production.
Normal function
El COQ2 gene provides instructions for making an enzyme that carries out one step in the production of a molecule called coenzyme Q10, which has several critical functions in cells throughout the body. In cell structures called mitochondria, coenzyme Q10 plays an essential role in a process called oxidative phosphorylation, which converts the energy from food into a form cells can use. Coenzyme Q10 is also involved in producing pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. In cell membranes, coenzyme Q10 acts as an antioxidant, protecting cells from damage caused by unstable oxygen-containing molecules (free radicals), which are byproducts of energy production.
Conditions referring to this gene or chromosome
Otros nombres
4-HB polyprenyltransferase
4-hydroxybenzoate decaprenyltransferase
4-hydroxybenzoate polyprenyltransferase, mitochondrial
CL640
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
coenzyme Q2 homolog, prenyltransferase
COQ10D1
FLJ26072
MSA1
para-hydroxybenzoate-polyprenyltransferase, mitochondrial
PHB:polyprenyltransferase
PHB:PPT
Lecturas adicionales y referencias
- coenzyme Q2, polyprenyltransferase; MedlinePlus, National Library of Medicine.
- Acosta MJ, Vazquez Fonseca L, Desbats MA, Cerqua C, Zordan R, Trevisson E, Salviati L. Coenzyme Q biosynthesis in health and disease. Biochim Biophys Acta. 2016 Aug;1857(8):1079-1085. doi: 10.1016/j.bbabio.2016.03.036. Epub 2016 Apr 7.
- Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. J Inherit Metab Dis. 2015 Jan;38(1):145-56. doi: 10.1007/s10545-014-9749-9. Epub 2014 Aug 5.
- Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, Salviati L. Genetics of coenzyme q10 deficiency. Mol Syndromol. 2014 Jul;5(3-4):156-62. doi: 10.1159/000362826.
- Mitsui J, Tsuji S. Mutant COQ2 in multiple-system atrophy. N Engl J Med. 2014 Jul 3;371(1):82-3. doi: 10.1056/NEJMc1311763. No abstract available.
- Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, Delahodde A, Bacq D, de Lonlay P, Munnich A, Rotig A. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest. 2007 Mar;117(3):765-72. doi: 10.1172/JCI29089.
- Multiple-System Atrophy Research Collaboration. Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J Med. 2013 Jul 18;369(3):233-44. doi: 10.1056/NEJMoa1212115. Epub 2013 Jun 12.
- Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet. 2006 Feb;78(2):345-9. doi: 10.1086/500092. Epub 2005 Dec 22.
- Salviati L, Trevisson E, Agosto C, Doimo M, Navas P. Primary Coenzyme Q10 Deficiency Overview. 2017 Jan 26 [updated 2023 Jun 8]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK410087/
- Schottlaender LV, Bettencourt C, Kiely AP, Chalasani A, Neergheen V, Holton JL, Hargreaves I, Houlden H. Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients. PLoS One. 2016 Feb 19;11(2):e0149557. doi: 10.1371/journal.pone.0149557. eCollection 2016.
- Sun Z, Ohta Y, Yamashita T, Sato K, Takemoto M, Hishikawa N, Abe K. New susceptible variant of COQ2 gene in Japanese patients with sporadic multiple system atrophy. Neurol Genet. 2016 Mar 3;2(2):e54. doi: 10.1212/NXG.0000000000000054. eCollection 2016 Apr.
- Zhao Q, Yang X, Tian S, An R, Zheng J, Xu Y. Association of the COQ2 V393A variant with risk of multiple system atrophy in East Asians: a case-control study and meta-analysis of the literature. Neurol Sci. 2016 Mar;37(3):423-30. doi: 10.1007/s10072-015-2414-8. Epub 2015 Nov 21.
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