Recombinant Human Methylmalonic Aciduria cblC type, with Homocystinuria
供应商
ProSpec
产品货号
PRO-1119
产品报价
¥询价/1mg ¥20ug ¥5ug
产品说明书
购买方式
在线支付宝及网银支付、支票、现金、电汇,或拨打全国免费服务电话4006800868与我们联系.
产品新闻
背景资料
Though the exact role of MMACHC is unknown, its C-terminal region shows similarity to TonB, which is a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Therefore, it is suggested that MMACHC may have a role in the binding and intracellular trafficking of cobalamin. MMACHC mutations are linked with methylmalonic aciduria and homocystinuria type cblC. MMACHC is widely expressed, it is expressed at higher level in the fetal liver, however it is also expressed in the spleen, lymph node, thymus and bone marrow. MMACHC is weakly or not expressed in the peripheral blood leukocytes.