Aliases for ME2 Gene
External Ids for ME2 Gene
Previous GeneCards Identifiers for ME2 Gene
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]
GeneCards Summary for ME2 Gene
ME2 (Malic Enzyme 2) is a Protein Coding gene. Diseases associated with ME2 include Epilepsy, Generalized, With Febrile Seizures Plus, Type 5 and Generalized Epilepsy With Febrile Seizures Plus. Among its related pathways are Glucose / Energy Metabolism and Pyruvate metabolism. GO annotations related to this gene include electron carrier activity and malic enzyme activity. An important paralog of this gene is ME3.