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Antibody detects endogenous levels of total DMGDH.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Dimethylglycine dehydrogenase, mitochondrial; EC 1.5.99.2; M2GD; ME2GLYDH
基因别名: 1200014D15Rik; AI787269; DMGDH; DMGDHD; ME2GLYDH
UniProt ID: (Human) Q9UI17, (Mouse) Q9DBT9
Entrez Gene ID: (Human) 29958, (Mouse) 74129