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313616

DMGDH

Size

£544.00

SKU:
313616
Application:
WB
Purity:
Purified by immunoaffinity chromatography.
Storage Conditions:
-20°C
Supplier:
United States Biological
Host:
Rabbit
Immunogen:
Synthetic peptide corresponding to C-terminal of human DMGDH.
Format:
Supplied as a liquid in PBS (without Mg2+ and Ca2+), pH 7.4, 0.02% sodium azide, 50% glycerol.
Extra Details:
This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants.Binzak B.A., Mol. Genet. Metab. 69:181-187(2000). Binzak B.A., Am. J. Hum. Genet. 68:839-847(2001). Moolenaar S.H., Clin. Chem. 45:459-464(1999) Applications: Suitable for use in Western Blot. Other applications not tested. Recommended Dilution: Western Blot: 1:500-1:3000 Optimal dilutions to be determined by the researcher. Storage and Stability: May be stored at 4°C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20°C. Aliquots are stable for 12 months after receipt. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Shipping Conditions:
Blue Ice