Human MMACHC protein

GeneTex

Human MMACHC protein

10

Research Use Only

0.5 mg/ml

Methylmalonic aciduria and homocystinuria type C protein

The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

2°C to 8°C,-20°C

12352202