Reactivities: | Human |
Presku: | AAP64603 |
Size: | 100ug |
Weight: | 91kDa |
Gene: | 29958 |
Format: | Lyophilized powder |
Target: | 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 names: | DMGDHD; ME2GLYDH |