|Other Names||NAD-dependent malic enzyme, mitochondrial, NAD-ME, Malic enzyme 2, ME2|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Cellular Location||Mitochondrion matrix.|
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This gene encodes a mitochondrial NAD-dependent malicenzyme, a homotetrameric protein, that catalyzes the oxidativedecarboxylation of malate to pyruvate. It had previously beenweakly linked to a syndrome known as Friedreich ataxia that hassince been shown to be the result of mutation in a completelydifferent gene. Certain single-nucleotide polymorphism haplotypesof this gene have been shown to increase the risk for idiopathicgeneralized epilepsy. Alternatively spliced transcript variantsencoding different isoforms found for this gene. [provided byRefSeq].
MacDonald, M.J., et al. Arch. Biochem. Biophys. 488(2):100-104(2009)French, D., et al. Blood 113(19):4512-4520(2009)Escamilla, M. Pharmacogenomics 8(7):691-695(2007)Chou, W.Y., et al. Biochem. Biophys. Res. Commun. 357(1):133-138(2007)Lenzen, K.P., et al. Epilepsia 46(10):1637-1641(2005)
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