Description
Product Characteristics:
Aliases: Malate dehydrogenase antibody, Malic enzyme 2 antibody, Malic enzyme 2 mitochondrial antibody, Malic enzyme 2 NAD(+) dependent mitochondrial antibody, Malic enzyme mitochondrial antibody, Malic enzyme NAD(+) dependent mitochondrial antibody, MAOM_HUMAN antibody, ME 2 antibody, ME2 antibody, mitochondrial antibody, NAD dependent malic enzyme mitochondrial antibody, NAD ME antibody, NAD-dependent malic enzyme antibody, NAD-ME antibody, ODS1 antibody, Pyruvic malic carboxylase antibody
Target Information: 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]