Official Full Name
malic enzyme 2, NAD(+)-dependent, mitochondrial
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.
ME2; malic enzyme 2, NAD(+)-dependent, mitochondrial; NAD-dependent malic enzyme, mitochondrial; NAD-ME; malate dehydrogenase; pyruvic-malic carboxylase; ODS1; zgc:100941