Full name: malic enzyme 2

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ODS1

Summary: 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]

Expression: Ubiquitous expression in duodenum (RPKM 15.0), colon (RPKM 14.1) and 25 other tissues

Gene size: 75140bp

Exon count: 16