DMGDH rabbit pAb

Ref. EK-ES2179

Informação sobre produto

• Nome: DMGDH rabbit pAb
• Sinónimos: DMGDH; Dimethylglycine dehydrogenase; mitochondrial; ME2GLYDH

Descrição

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],

• Marca: ELK Biotechnology