ACAA2
Description
ACAA2, also known as acetyl-CoA acyltransferase 2, is a mitochondrial enzyme responsible for catalyzing the penultimate step in the breakdown of fatty acids. It plays a crucial role in energy metabolism, particularly during fasting and intense exercise when fatty acids serve as the primary energy source.
Associated Diseases
Mutations in the ACA A2 gene have been linked to several metabolic disorders:
- Mitochondrial Fatty Acid Oxidation Disorders (MFAO): These disorders result from defects in fatty acid oxidation pathways, leading to the accumulation of toxic fatty acid metabolites and subsequent mitochondrial dysfunction. ACA A2 deficiency is one of the most common MFAO disorders.
- Carnitine Palmitoyltransferase II Deficiency (CPT II): CPT II is an enzyme that transports long-chain fatty acids into mitochondria for oxidation. Mutations in ACA A2 can impair CPT II activity, leading to reduced fatty acid oxidation and energy production.
- Cholangiopathy and Hepatitis: Recent studies have suggested an association between ACA A2 deficiency and liver diseases, including cholangiopathy (bile duct disorders) and hepatitis.
Did you Know ?
ACAA2 deficiency is estimated to affect approximately 1 in every 8,300 individuals worldwide. However, the exact prevalence may vary depending on population genetics and diagnostic criteria.
