coenzyme Q8A
Last updated 18 Aug 2020
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The COQ8A gene provides instructions for making a protein that is involved 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
The COQ8A gene provides instructions for making a protein that is involved 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
aarF domain-containing protein kinase 3
ADCK3
ARCA2
atypical kinase COQ8A, mitochondrial
CABC1
chaperone activity of bc1 complex-like, mitochondrial
chaperone, ABC1 activity of bc1 complex homolog
coenzyme Q protein 8A
coenzyme Q8 homolog
COQ10D4
COQ8
SCAR9
Further reading and references
- coenzyme Q8A; 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.
- Cullen JK, Abdul Murad N, Yeo A, McKenzie M, Ward M, Chong KL, Schieber NL, Parton RG, Lim YC, Wolvetang E, Maghzal GJ, Stocker R, Lavin MF. AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation. PLoS One. 2016 Feb 11;11(2):e0148213. doi: 10.1371/journal.pone.0148213. eCollection 2016.
- 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.
- Khadria AS, Mueller BK, Stefely JA, Tan CH, Pagliarini DJ, Senes A. A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3. J Am Chem Soc. 2014 Oct 8;136(40):14068-77. doi: 10.1021/ja505017f. Epub 2014 Sep 24.
- Mignot C, Apartis E, Durr A, Marques Lourenco C, Charles P, Devos D, Moreau C, de Lonlay P, Drouot N, Burglen L, Kempf N, Nourisson E, Chantot-Bastaraud S, Lebre AS, Rio M, Chaix Y, Bieth E, Roze E, Bonnet I, Canaple S, Rastel C, Brice A, Rotig A, Desguerre I, Tranchant C, Koenig M, Anheim M. Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. Orphanet J Rare Dis. 2013 Oct 28;8:173. doi: 10.1186/1750-1172-8-173.
- 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/
- Stefely JA, Reidenbach AG, Ulbrich A, Oruganty K, Floyd BJ, Jochem A, Saunders JM, Johnson IE, Minogue CE, Wrobel RL, Barber GE, Lee D, Li S, Kannan N, Coon JJ, Bingman CA, Pagliarini DJ. Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. Mol Cell. 2015 Jan 8;57(1):83-94. doi: 10.1016/j.molcel.2014.11.002. Epub 2014 Dec 11.
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