This gene encodes a a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with Short Chain Acyl-CoA Dehydrogenase Deficiency. It is an autosomal recessive disorder resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage myopathy in adults.
Immunogen Information
Immunogen
A synthetic peptide of human ACADS
Gene ID
35
Swissprot
P16219
Synonyms
ACAD3ACADSACADSAcyl Coenzyme A dehydrogenaseC2 to C3 short chainAcyl-CoA dehydrogenaseC2 to C3 short chainAcyl-CoA dehydrogenaseshort chainAcyl-Coenzyme A dehydrogenaseshort chainAI196007Bcd-1Bcd1Butyryl CoA dehydrogenaseButyryl-CoA dehydro