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Immunogen sequence: IINVVNGPIT YSPDILPMVG PHQGVRNYWV AIGFGYGIIH AGGVGKYLSD WILHGEPPFD LIELDPNRYG KWTTTQYTE
Highest antigen sequence identity to the following orthologs: Mouse - 97%, Rat - 97%.
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: DMGDH; DMGDHD; ME2GLYDH
UniProt ID: (Human) Q9UI17
Entrez Gene ID: (Human) 29958