{"symbol":"ME2","synonyms":["ODS1"],"name":"malic enzyme 2, NAD(+)-dependent, mitochondrial","description":"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]","ncbiEntrezGeneId":4200,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4200","proteins":[{"symbol":"MAOM_HUMAN","href":"/api/1.0/protein/MAOM_HUMAN"}],"hgncRootFamilies":[]}