Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: AGARKCGALLK YPAPVTSLKA RSDGTWDVET PQGSMRANRI VNAAGFWARE VGKMIGLEHP LIPVQHQYVV TSTISEVK
Highest antigen sequence identity to the following orthologs - mouse 92%, rat 90%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Dimethylglycine dehydrogenase, mitochondrial; EC 1.5.99.2; M2GD; ME2GLYDH
Gene Aliases: DMGDH; DMGDHD; ME2GLYDH
UniProt ID: (Human) Q9UI17
Entrez Gene ID: (Human) 29958
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