coenzyme Q2, polyprenyltransferase
अंतिम अद्यतन 21 Mar 2023
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
यह 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
यह 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
Other names
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
अधिक पठन और संदर्भ
- 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.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.

पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.