DMGDH Polyclonal Antibody, 50ul Diagnostic Probes & Oligos Alternative splicing of PIK3R1 results
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DMGDH Polyclonal Antibody, 50ul Diagnostic Probes & Oligos Alternative splicing of PIK3R1 resultsDMGDH encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme (dimethylglycine dehydrogenase) 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
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