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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
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