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ME2 / Malate Dehydrogenase 2 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.
Gene Name: | malic enzyme 2, NAD(+)-dependent, mitochondrial |
Synonyms: | ME2, Malate dehydrogenase, Pyruvic-malic carboxylase, Malic enzyme 2, NAD-ME, ODS1 |
Target Sequences: | NM_002396 NP_002387.1 P23368 |
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