Name: Recombinant Human Methylmalonic Aciduria cblC type, with Homocystinuria
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- Overview
  - MMACHC Human Recombinant produced in E. Coli is a single, non-glycosylated polypeptide chain containing 306 amino acids (1-282 a.a) and having a molecular mass of 34kDa. MMACHC is fused to a 24 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques. 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.
    
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- Properties
  - Protein Name
    
    Methylmalonic aciduria and homocystinuria type C protein, MMACHC, cblC, RP11-291L19.3.
    
    Source
    
    E. coli
    
    Type
    
    Recombinant Proteins
    
    Purification
    
    Greater than 90.0% as determined by SDS-PAGE.
    
    Formulation
    
    MMACHC protein solution (0.5mg/ml) containing 20mM Tris-HCl buffer (pH 8.0), 0.15M NaCl, 10% glycerol and 1mM DTT.
    
    Storage
    
    Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA). Avoid multiple freeze-thaw cycles.
    
    * For Research Use Only. Not for use in diagnostic/therapeutics procedures.

Recombinant Human Methylmalonic Aciduria cblC type, with Homocystinuria

Recombinant Human Methylmalonic Aciduria cblC type, with Homocystinuria

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