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OXCT1 gene

3-oxoacid CoA-transferase 1
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Normal Function

The OXCT1 gene provides instruction for making an enzyme called succinyl-CoA:3-ketoacid CoA transferase, often abbreviated as SCOT. The SCOT enzyme is made in the energy-producing centers of cells (mitochondria). The enzyme plays a role in the breakdown of ketones, which are molecules produced by the liver during the breakdown of fats. Ketones are an important source of energy during prolonged periods without food (fasting) or when energy demands are increased, such as during illness or when exercising. In the processing of ketones, the SCOT enzyme converts the molecule acetoacetate to acetoacetyl-CoA.

Health Conditions Related to Genetic Changes

Succinyl-CoA:3-ketoacid CoA transferase deficiency

At least 20 mutations in the OXCT1 gene have been found to cause SCOT deficiency, a condition characterized by episodes of extreme tiredness, appetite loss, and seizures, known as ketoacidotic attacks. Most OXCT1 gene mutations lead to changes in single protein building blocks (amino acids) in the SCOT enzyme and result in an enzyme with little or no function. A reduction in the amount of functional enzyme leads to an inability to break down ketones, often resulting in decreased energy production and an elevated level of ketones in the blood. If these signs become severe, a ketoacidotic attack can occur.

More About This Health Condition

Other Names for This Gene

  • 3-oxoacid CoA transferase 1
  • 3-oxoacid-CoA transferase 1
  • OXCT
  • SCOT
  • SCOT1_HUMAN
  • somatic-type succinyl CoA:3-oxoacid CoA-transferase
  • somatic-type succinyl-CoA:3-oxoacid-CoA-transferase
  • succinyl CoA:3-oxoacid CoA transferase
  • succinyl-CoA:3-ketoacid-CoA transferase
  • succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Berry GT, Fukao T, Mitchell GA, Mazur A, Ciafre M, Gibson J, Kondo N, Palmieri MJ. Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. J Inherit Metab Dis. 2001 Oct;24(5):587-95. Citation on PubMed
  • Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T. A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S307-13. doi: 10.1007/s10545-010-9168-5. Epub 2010 Jul 21. Citation on PubMed
  • Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N. Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. Genomics. 2000 Sep 1;68(2):144-51. Citation on PubMed
  • Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Barić I, Zabot MT, Kondo N. Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Biochim Biophys Acta. 2011 May;1812(5):619-24. doi: 10.1016/j.bbadis.2011.01.015. Epub 2011 Feb 2. Citation on PubMed
  • Fukao T, Shintaku H, Kusubae R, Zhang GX, Nakamura K, Kondo M, Kondo N. Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis. Pediatr Res. 2004 Dec;56(6):858-63. Epub 2004 Oct 20. Citation on PubMed
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