OXCT1 gene
The OXCT1 gene provides instructions for an enzyme that helps the body break down ketones for energy during periods of fasting or increased demand.
Normal Function
The OXCT1 gene provides instructions for making an enzyme called succinyl-CoA:3-ketoacid CoA transferase, often abbreviated as SCOT. This enzyme is produced in the mitochondria of cells.
SCOT plays a role in the breakdown of ketones, which are molecules produced by the liver during the breakdown of fats. Ketones serve as an important energy source during prolonged fasting or when energy demands are high, such as during illness or exercise. The SCOT enzyme processes ketones by converting 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. This condition is characterized by episodes of extreme tiredness, appetite loss, and seizures, known as ketoacidotic attacks.
Most OXCT1 mutations result in an enzyme with little or no function. A reduction in functional enzyme leads to an inability to break down ketones, resulting in decreased energy production and elevated levels of ketones in the blood. If these signs become severe, a ketoacidotic attack can occur.
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