DMGDH rabbit polyclonal, anti-human, mouse, rat

Backgroud: 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.,

Synonyms: DMGDH, Dimethylglycine dehydrogenase, mitochondrial, ME2GLYDH

Gene Name: DMGDH

Gene ID: 29958

SwissProt ID: Q9UI17

Purification: Affinity purification

Storage: Store at 4°C short term. Aliquot and store at -20°C for 12 months. Avoid freeze/thaw cycles.