Gene: DMGDH
Alternate names for this Gene: DMGDHD|ME2GLYDH
Gene Summary: 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.
Gene is located in Chromosome: 5
Location in Chromosome : 5q14.1
Description of this Gene: dimethylglycine dehydrogenase
Type of Gene: protein-coding