Alias |
Malate dehydrogenase,Malic enzyme 2,Malic enzyme 2 mitochondrial,Malic enzyme 2 NAD(+) dependent mitochondrial,Malic enzyme mitochondrial,Malic enzyme NAD(+) dependent mitochondrial,MAOM,ME 2,ME2,mitochondrial,NAD dependent malic enzyme mitochondrial,NAD ME,NAD-dependent malic enzyme,NAD-ME,ODS1,Pyruvic malic carboxylase |
Background |
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. |