Recombinant human MMADHC protein
MMADHC is a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Recombinant human MMADHC 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 D protein, Metabolism of cobalamin associated D, CL25022, cblD, C2orf25
Expression System
E.coli
Antigen Species
Human
Tag
His-Tag
Applications
SDS-PAGE
Concentration
1 mg/mL (determined by Bradford assay)
Purity
> 90% by SDS-PAGE
Molecular Weight
31 kDa (281aa) confirmed by MALDI-TOF
Additionnal Information
References & Citations
Coelho D, Suormala T, et al. (2008) . N Engl J Med. 358 (14) :1454-64.
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
Metabolism
NCBI Accession Number
NP_056517
Uniprot Accession Number
Q9H3L0
Species
Human
AA Sequence
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