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COQ8A gene

coenzyme Q8A
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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.

Health Conditions Related to Genetic Changes

Primary coenzyme Q10 deficiency

At least 36 mutations in the COQ8A gene have been found to cause a disorder known as primary coenzyme Q10 deficiency. This rare disease usually becomes apparent in infancy or early childhood, but it can occur at any age. It can affect many parts of the body, most often the brain, muscles, and kidneys. The COQ8A gene mutations associated with this disorder change the structure of the COQ8A protein or prevent its production, which impairs the normal production of coenzyme Q10. Studies suggest that a shortage (deficiency) of coenzyme Q10 impairs oxidative phosphorylation and increases the vulnerability of cells to damage from free radicals. A deficiency of coenzyme Q10 may also disrupt the production of pyrimidines. These changes can cause cells throughout the body to malfunction, which may help explain the variety of organs and tissues that can be affected by primary coenzyme Q10 deficiency.

More About This Health Condition

Other Names for This Gene

  • 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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

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. Epub 2016 Apr 7. Review. Citation on PubMed
  • 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. Erratum in: PLoS One. 2016;11(7):e0160162. Citation on PubMed or Free article on PubMed Central
  • 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. Review. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed or Free article on PubMed Central
  • Mignot C, Apartis E, Durr A, Marques Lourenço 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, Rötig 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. Citation on PubMed or Free article on PubMed Central
  • 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, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK410087/ Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
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