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DMGDH 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.
Gene Name: | dimethylglycine dehydrogenase |
Synonyms: | DMGDH, Dimethylglycine dehydrogenase, DMGDHD, ME2GLYDH |
Target Sequences: | NM_013391 NP_037523.2 Q9UI17 |
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