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DMGDH Rabbit Polyclonal Antibody
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Specifications
| Product Data | |
| Applications | WB |
| Recommended Dilution | WB: 500-2000 WB positive control: Human fetal liver tissue lysate |
| Reactivities | Human |
| Host | Rabbit |
| Isotype | IgG |
| Clonality | Polyclonal |
| Immunogen | Synthetic peptide of human DMGDH |
| Formulation | pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
| Concentration | lot specific |
| Purification | Antigen affinity purification |
| Conjugation | Unconjugated |
| Storage | Store at -20°C. |
| Stability | 1 year |
| Predicted Protein Size | 97 kDa |
| Database Link | |
| 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. |
| Reference Data | |
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