DMGDH encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme(dimethylglycine dehydrogenase)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. 蛋白别名为:DMGDH; Dimethylglycine dehydrogenase; mitochondrial; ME2GLYDH;基因ID为:29958;蛋白质ID:Q9UI17
应用类型
WB,IHC-p,ELISA补充:最优的抗体稀释比例需要基于客户实验进行优化.建议的起始稀释比例如下: WB: 1:500-1:2000, IHC-p: 1:100-1:300, ELISA: 1:20000. Not yet tested in other applications.
免疫原
合成多肽:the C-terminal region of human DMGDH. at AA rangle: 790-870