Protein Name | malic enzyme 2 |
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Organism | Homo sapiens |
Gene ID | 4200 |
Gene Symbol | ME2 |
UniProt | P23368 (MAOM_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
312
Total Number of Articles : 212 |
Description |
malic enzyme 2 |
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, Dec 2009] |
synonyms |
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Properties | |