Anti-DMGDH Antibody

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.<br><br>Binzak B.A., Mol. Genet. Metab. 69:181-187(2000). <br>Binzak B.A., Am. J. Hum. Genet. 68:839-847(2001).<br>Moolenaar S.H., Clin. Chem. 45:459-464(1999)

Amino Acids, Metabolism, Mitochondrial, Mitochondrial Markers, Mitochondrial Metabolism, Neuroscience, Neurotransmitter, Pathways and Processes, Signal Transduction