This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Aliases: MCAD; ACAD1; MCADH
Entrez GeneID: 34
Swissprot: P11310
WB Predicted band size: 46.6KDa
Host/Isotype: Mouse IgG1
Species Reactivity: Human
Immunogen: Purified recombinant fragment of human ACADM (AA: 26-185) expressed in E. Coli.
