COQ2 Gene

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Zhou, V. COQ2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5259 (accessed on 22 September 2026).

Zhou V. COQ2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5259. Accessed September 22, 2026.

Zhou, Vicky. "COQ2 Gene" Encyclopedia, https://encyclopedia.pub/entry/5259 (accessed September 22, 2026).

Zhou, V. (2020, December 24). COQ2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5259

Zhou, Vicky. "COQ2 Gene." Encyclopedia. Web. 24 December, 2020.

COQ2 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/coq2

coenzyme Q2, polyprenyltransferase

genes

References

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.Review.
Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L. Genetic bases andclinical manifestations of coenzyme Q10 (CoQ 10) deficiency. J Inherit Metab Dis.2015 Jan;38(1):145-56. doi: 10.1007/s10545-014-9749-9.
Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, Salviati L. Genetics ofcoenzyme 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.
Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, Delahodde A, Bacq D, de Lonlay P, Munnich A, Rötig A. Prenyldiphosphate synthase, subunit 1 (PDSS1)and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiencyand oxidative phosphorylation disorders. J Clin Invest. 2007 Mar;117(3):765-72.
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/NEJMoa1212115.3;371(1):94.
Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M. Amutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primarycoenzyme Q10 deficiency. Am J Hum Genet. 2006 Feb;78(2):345-9.
Salviati L, Trevisson E, Doimo M, Navas P. Primary Coenzyme Q(10) Deficiency. 2017 Jan 26. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, StephensK, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK410087/
Schottlaender LV, Bettencourt C, Kiely AP, Chalasani A, Neergheen V, HoltonJL, 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.
Sun Z, Ohta Y, Yamashita T, Sato K, Takemoto M, Hishikawa N, Abe K. Newsusceptible variant of COQ2 gene in Japanese patients with sporadic multiplesystem atrophy. Neurol Genet. 2016 Mar 3;2(2):e54. doi:10.1212/NXG.0000000000000054.
Zhao Q, Yang X, Tian S, An R, Zheng J, Xu Y. Association of the COQ2 V393Avariant with risk of multiple system atrophy in East Asians: a case-control studyand meta-analysis of the literature. Neurol Sci. 2016 Mar;37(3):423-30. doi:10.1007/s10072-015-2414-8.

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Subjects: Genetics & Heredity

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