DMGDH Rabbit Polyclonal 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. [provided by RefSeq, Jul 2013], catalytic activity:N, N-dimethylglycine + acceptor + H (2) O = sarcosine + formaldehyde + reduced acceptor., cofactor:Binds 1 FAD covalently per monomer., disease:Defects in DMGDH are the cause of DMGDH deficiency (DMGDHD) [MIM:605850]. DMGDHD is a disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N, N-dimethylglycine (DMG) in serum and urine., pathway:Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 2/2., similarity:Belongs to the gcvT family., subunit:Monomer.