{"symbol":"DMGDH","synonyms":["ME2GLYDH","DMGDHD"],"name":"dimethylglycine dehydrogenase","description":"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]","ncbiEntrezGeneId":29958,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/29958","proteins":[{"symbol":"M2GD_HUMAN","href":"/api/1.0/protein/M2GD_HUMAN"}],"hgncRootFamilies":[]}