ACO2
ACO2: A Critical Enzyme in Fatty Acid Metabolism
Description
Acyl-CoA oxidase 2 (ACO2) is a vital enzyme involved in the metabolism of fatty acids, particularly in the liver. It plays a crucial role in the breakdown of long-chain fatty acids to produce energy. ACO2 is primarily located within the peroxisomes of liver cells, specialized organelles responsible for various metabolic processes.
Associated Diseases
Dysregulation of ACO2 activity has been linked to several health conditions, including:
- Zellweger Syndrome: A rare genetic disorder characterized by severe peroxisome dysfunction. ACO2 deficiency is one of the main biochemical hallmarks of this syndrome.
- Neonatal Adrenoleukodystrophy: A severe neurological disorder that typically affects infants and toddlers. Mutations in the ACO2 gene can cause this condition.
- Cholestasis: A condition in which bile flow from the liver is impaired. ACO2 deficiency can contribute to cholestasis by altering lipid metabolism.
- Cardiovascular Disease: Studies have suggested that ACO2 dysfunction may play a role in the development of heart disease and stroke.
Did you Know ?
Approximately 1 in 50,000 people are affected by Zellweger Syndrome, a disease caused by ACO2 deficiency. This rare disorder highlights the critical role of ACO2 in human health.
