This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ME2-20-RE | 20 (40 μL) | 200 μL |  |
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| ME2-20-OR | 20 (40 μL) | 200 μL |  |
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| ME2-20-GO | 20 (40 μL) | 200 μL |  |
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| ME2-20-GR | 20 (40 μL) | 200 μL |  |
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| ME2-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]
Gene Symbol : ME2
Gene Name : Malic enzyme 2
Chromosome : CHR 18: 508,786,03-509,497,94
Locus : 18q21.2
Alt. Genes : LRPPRC
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