ACADM Mouse mAb

ACADM is a homotetrameric flavoenzyme localized in the mitochondrial matrix, with each subunit containing one FAD cofactor. This enzyme catalyzes the first step of the mitochondrial fatty acid β-oxidation pathway, showing specific preference for medium-chain acyl-CoA substrates with chain lengths of 4 to 12 carbon atoms, dehydrogenating them to produce the corresponding trans-2,3-enoyl-CoAs, and transferring electrons via electron-transferring flavoprotein (ETF) to the mitochondrial respiratory chain for ATP production. Defects in the ACADM gene cause medium-chain acyl-CoA dehydrogenase deficiency (MCADD), one of the most common inherited disorders of fatty acid oxidation metabolism, particularly prevalent in North American and European Caucasian populations. Clinical manifestations include fasting-induced hypoglycemia, hepatic dysfunction, and encephalopathy, which can lead to sudden infant death in severe cases, and many pathogenic mutations (such as the most common p.K304E) result in protein misfolding and loss of function.