ME2 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.
malate dehydrogenase; malate dehydrogenase (oxaloacetate-decarboxylating); Malic enzyme 2; malic enzyme 2, NAD(+)-dependent, mitochondrial; NAD-dependent malic enzyme, mitochondrial; NAD-ME; pyruvic-malic carboxylase
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