Recombinant human MMACHC protein
The exact function of MMACHC 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 protein are associated with methylmalonic aciduria and homocystinuria type cblC. Recombinant human MMACHC protein, fused to His-tag at N-terminus, was expressed in E. coli and purified by using conventional chromatography techniques.
Product Specifications
Product Name Alternative
Methylmalonic aciduria and homocystinuria type C protein, RP11-291L19.3, cblC
Expression System
E.coli
Antigen Species
Human
Tag
His-Tag
Applications
SDS-PAGE
Concentration
0.5 mg/mL (determined by Bradford assay)
Purity
> 90% by SDS-PAGE
Molecular Weight
34.3 kDa (306aa) confirmed by MALDI-TOF
Additionnal Information
References & Citations
Lerner-Ellis JP., et al. (2006) Nat Genet. 38 (1) :93-100.; ; Tsai AC., et al. (2007) Am. J. Med. Genet. A 143A (20) : 2430-4.
Storage Conditions
Can be stored at 2°C to 8°C for 1 week. For long term storage, aliquot and store at -20C to -80C. Avoid repeated freezing and thawing cycles.
Formulation
Liquid in. 20 mM Tris-HCl buffer (pH 8.0) containing 0.15M NaCl, 10% glycerol, 1mM DTT
Scientific Category
Signal Transduction
NCBI Accession Number
NP_056321
Uniprot Accession Number
Q9Y4U1
Species
Human
AA Sequence
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