Product Information
Molecular Weight46588Da
Protein NameMedium-chain specific acyl-CoA dehydrogenase mitochondrial
Human Gene Id34
Human Swiss Prot NoP11310
Mouse Gene Id11364
Mouse Swiss Prot NoP45952
Rat Gene Id24158
Rat Swiss Prot NoP08503
SpecificityMCAD Polyclonal Antibody detects endogenous levels of MCAD protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameACADM; Medium-chain specific acyl-CoA dehydrogenase, mitochondrial; MCAD
Observed Band(KD)46
Functioncatalytic activity:Acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor.,cofactor:FAD.,disease:Defects in ACADM are the cause of medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]. It is an autosomal recessive disease which causes fasting hypoglycemia, hepatic dysfunction, and encephalopathy, often resulting in death in infancy. The disease frequency is one in 13000.,function:This enzyme is specific for acyl chain lengths of 4 to 16.,miscellaneous:A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues.,miscellaneous:Utilizes the electron transfer flavoprotein (ETF) as electron acceptor that transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).,pathway:Lipid metabolism; mitochondrial fatty acid beta-oxidation.,similarity:
Subcellular LocationMitochondrion matrix .
ExpressionBrain,Cajal-Retzius cell,Cerebellum,Colon,Liver,
Backgroundacyl-CoA dehydrogenase, C-4 to C-12 straight chain(ACADM) Homo sapiens 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. [provided by RefSeq, Jul 2008],