ACADM, ACAD 1, ACAD1, Acadm, ACADM_HUMAN, Acyl coenzyme A dehydrogenase, Acyl coenzyme A dehydrogenase C 4 to C 12 straight chain, FLJ18227, FLJ93013, FLJ99884, MCAD, MCADH, Medium chain acyl CoA dehydrogenase, Medium chain fatty acyl CoA dehydrogenase, Medium chain specific acyl CoA dehydrogenase, Medium chain specific acyl CoA dehydrogenase mitochondrial, Medium-chain specific acyl-CoA dehydrogenase, mitochondriala
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.
Proben:
FFPE tissue
Target-Kategorie:
Human ACADM
IHC0625H
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