Entrez gene ID | | 4200 |
Official gene symbol | | ME2 |
Full name | | malic enzyme 2, NAD(+)-dependent, mitochondrial |
Aliases | | ,ODS1, |
Gene 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] |
Location | | Chromosome: 18 Locus: 6p25-p24|18q21 |
Gene position | | 48405432 - 48476165 Map Viewer |
Gene orientation | | plus |
Gene size | | 70734 bp |
Gene sequence |
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OMIM ID | | 154270 |
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