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Background: |
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. |
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Applications: |
ELISA, WB |
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Name of antibody: |
DMGDH |
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Immunogen: |
Synthetic peptide of human DMGDH |
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Full name: |
dimethylglycine dehydrogenase |
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Synonyms: |
DMGDHD; ME2GLYDH |
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SwissProt: |
Q9UI17 |
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ELISA Recommended dilution: |
5000-10000 |
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WB Predicted band size: |
97 kDa |
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WB Positive control: |
Human fetal liver tissue lysate |
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WB Recommended dilution: |
500-2000 |
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