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. [provided by RefSeq, Jul 2013]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| DMGDH-20-RE | 20 (40 μL) | 200 μL |  |
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| DMGDH-20-OR | 20 (40 μL) | 200 μL |  |
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| DMGDH-20-GO | 20 (40 μL) | 200 μL |  |
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| DMGDH-20-GR | 20 (40 μL) | 200 μL |  |
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| DMGDH-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Jul 2013]
Gene Symbol : DMGDH
Gene Name : Dimethylglycine dehydrogenase
Chromosome : CHR 5: 790,696,73-789,975,63
Locus : 5q14.1
Alt. Genes : PREB
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