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]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
ACADM-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
ACADM-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
ACADM-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
ACADM-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
ACADM-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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]
Gene Symbol : ACADM
Gene Name : Acyl-CoA dehydrogenase medium chain
Chromosome : CHR 1: 757,243,46-757,636,78
Locus : 1p31.1
Alt. Genes : LRPPRC
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