Structure and Substrate Specificity of Human Short-Chain Acyl-CoA Dehydrogenase and Insights into Pathogenicity of Disease-Associated Mutations.

Abstract excerpt

Short-chain acyl-CoA dehydrogenase (SCAD) is a critical enzyme in mitochondrial fatty acid β-oxidation, catalyzing the initial dehydrogenation of short-chain acyl-CoAs. Mutations in the ACADS gene cause SCAD deficiency (SCADD), a disorder with remarkably heterogeneous clinical presentation. However, the molecular mechanisms underlying substrate specificity and the pathogenicity of most ACADS variants remain...

Topics

• Humans
• Substrate Specificity
• Mutation
• Butyryl-CoA Dehydrogenase
• Models, Molecular
• Lipid Metabolism, Inborn Errors
• Cryoelectron Microscopy
• Acyl Coenzyme A
• Protein Conformation
• Protein Folding
• Acyl-CoA Dehydrogenase