This Antibody was verified by Relative expression to ensure that the antibody binds to the antigen stated. View Details
Immunogen sequence: TLATDDVDPE GNESIWYNGK VVGNTTSGSY SYSIQKSLAF AYVPVQLSEV GQQVEVELLG KNYPAVIIQE PLVLTEPTRN RLQK
Highest antigen sequence identity to the following orthologs: Mouse - 94%, Rat - 92%.
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. [provided by RefSeq, Jul 2013]
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: dimethylglycine dehydrogenase; Dimethylglycine dehydrogenase, mitochondrial; EC 184.108.40.206; M2GD; ME2GLYDH; mitochondrial
Gene Aliases: DMGDH; DMGDHD; ME2GLYDH
UniProt ID: (Human) Q9UI17
Entrez Gene ID: (Human) 29958