ACAA2

ACAA2 (Acetyl-CoA acyltransferase 2) is a gene that encodes a key enzyme involved in the metabolism of fatty acids. This enzyme is primarily located in the mitochondria, the energy-producing structures within cells.

Function

The ACAA2 gene provides instructions for making an enzyme called acetyl-CoA acyltransferase 2. This enzyme plays a crucial role in the final steps of breaking down (metabolizing) a group of fats called long-chain fatty acids. These fatty acids are a major source of energy for the heart and muscles. During periods of fasting, they are also an important energy source for the liver and other tissues.

Clinical significance

Mutations in the ACAA2 gene have been associated with a rare metabolic disorder known as ACAA2 deficiency. This condition is characterized by a variety of symptoms, including neurological problems and abnormalities in the liver.

See also

• Fatty acid metabolism
• Mitochondria
• Metabolic disorder

References

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