|Other Names||L-2-hydroxyglutarate dehydrogenase, mitochondrial, Duranin, L2HGDH, C14orf160|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|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.|
|Tissue Location||Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow.|
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Provided below are standard protocols that you may find useful for product applications.
This gene encodes L-2-hydroxyglutarate dehydrogenase, aFAD-dependent enzyme that oxidizes L-2-hydroxyglutarate toalpha-ketoglutarate in a variety of mammalian tissues. Mutations inthis gene cause L-2-hydroxyglutaric aciduria, a rare autosomalrecessive neurometabolic disorder resulting in moderate to severemental retardation.
Short, A.D., et al. Vet. Rec. 167(12):455-457(2010)Steenweg, M.E., et al. Hum. Mutat. 31(4):380-390(2010)Kranendijk, M., et al. Hum. Mutat. 31(3):279-283(2010)Vilarinho, L., et al. J. Hum. Genet. 55(1):55-58(2010)Haliloglu, G., et al. Neuropediatrics 39(2):119-122(2008)
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