ACSF3

ACSF3

ACSF3, or Acyl-CoA Synthetase Family Member 3, is a gene that encodes a member of the acyl-CoA synthetase family of enzymes. These enzymes catalyze the reaction of ATP and a long-chain fatty acid to form an acyl-CoA, AMP, and pyrophosphate. The encoded protein is localized to mitochondria and plays a key role in fatty acid metabolism in these organelles.

Function

The ACSF3 gene is responsible for the production of an enzyme that is involved in the metabolism of fatty acids. This enzyme is found in the mitochondria, the energy-producing centers of cells. It is involved in the breakdown of certain types of fatty acids, specifically very long-chain fatty acids, which are fats that have a chain length of more than 22 carbon atoms.

Clinical significance

Mutations in the ACSF3 gene have been associated with Combined Malonic and Methylmalonic Aciduria (CMAMMA), a rare metabolic disorder. This condition is characterized by elevated levels of malonic acid and methylmalonic acid in the urine. Symptoms of CMAMMA can include developmental delay, failure to thrive, and signs of metabolic acidosis.

See also

• Acyl-CoA synthetase
• Fatty acid metabolism
• Mitochondria
• Combined Malonic and Methylmalonic Aciduria