DMGDH rabbit pAb

Ref. EK-ES2179

Informations sur le produit

• Nom: DMGDH rabbit pAb
• Synonymes: DMGDH; Dimethylglycine dehydrogenase; mitochondrial; ME2GLYDH

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],

• Marque: ELK Biotechnology