|Other Names||Dimethylglycine dehydrogenase, mitochondrial, ME2GLYDH, DMGDH|
|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.|
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Provided below are standard protocols that you may find useful for product applications.
This gene encodes an enzyme involved in the catabolism ofcholine, catalyzing the oxidative demethylation of dimethylglycineto form sarcosine. The enzyme is found as a monomer in themitochondrial matrix, and uses flavin adenine dinucleotide andfolate as cofactors. Mutation in this gene causes dimethylglycinedehydrogenase deficiency, characterized by a fishlike body odor,chronic muscle fatigue, and elevated levels of the muscle form ofcreatine kinase in serum.
Mostowska, A., et al. Eur. J. Oral Sci. 118(4):325-332(2010)Bailey, S.D., et al. Diabetes Care (2010) In press :Jugessur, A., et al. PLoS ONE 5 (7), E11493 (2010) :Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)Boyles, A.L., et al. Genet. Epidemiol. 33(3):247-255(2009)
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