Acyl-CoA Synthetase Family Member 3 (ACSF3) Antibody

Background

ACSF3 is a mitochondrial acyl-CoA synthetase responsible for the activation of malonic and methylmalonic acids, essential steps in the metabolism of certain fatty acids and amino acids. Its primary function is to facilitate the incorporation of these intermediates into metabolic pathways such as the tricarboxylic acid (TCA) cycle and gluconeogenesis. ACSF3 is highly expressed in the liver and skeletal muscle, where it supports energy homeostasis and metabolic flexibility by processing odd-chain fatty acids and branched-chain amino acids. Mutations in the ACSF3 gene are associated with combined malonic and methylmalonic aciduria, a rare metabolic disorder characterized by the accumulation of malonic acid and methylmalonic acid, leading to metabolic acidosis and developmental delays. By regulating these metabolic intermediates, ACSF3 plays a crucial role in preventing the buildup of toxic metabolites and ensuring efficient energy production under metabolic stress conditions.