MMACHC, Recombinant Protein

Methylmalonic aciduria and homocystinuria type C protein; RP11-291L19.3; cblC

For Research Use Only. Not for use in diagnostic procedures.

E Coli

> 90% by SDS-PAGE

Liquid. In 20mM Tris-HCl Buffer (pH 8.0) containing 0.15M NaCl, 10% glycerol, 1mM DTT

0.5 mg/ml (determined by Bradford assay) (lot specific)

Can be stored at 4 degree C short term (1-2 weeks).
For long term storage, aliquot and store at -20 degree C or -70 degree C.
Avoid repeated freezing and thawing cycles.

Small volumes of MMACHC recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Signal Transduction

SDS-PAGE

34 kDa (306aa), confirmed by MALDI-TOF

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

methylmalonic aciduria and homocystinuria type C protein

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]

Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate (PubMed:19700356, PubMed:21697092, PubMed:22642810). Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin (PubMed:19801555, PubMed:22642810, PubMed:25809485). Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen (PubMed:19801555). Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives (PubMed:21071249).

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.

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