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

MMACHC, Methylmalonic aciduria and homocystinuria type C protein, RP11-291L19.3, cblC, ATGP1574-10 ��g, ATGP1574-20 µg, ATGP1574-50 µg, ATGP1574-100 µg, ATGP1574-250 µg, ATGP1574-500 µg, ATGP1574-1 mg, ATGP1574-10, ATGP1574-20, ATGP1574-50, ATGP1574-100, ATGP1574-250, ATGP1574-500, ATGP1574-1

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

MEPKVA ELKQKIEDTL CPFGFEVYPF QVAWYNELLP PAFHLPLPGP TLAFLVLSTP AMFDRALKPF LQSCHLRMLT DPVDQCVAYH LGRVRESLPE LQIEIIADYE VHPNRRPKIL AQTAAHVAGA AYYYQRQDVE ADPWGNQRIS GVCIHPRFGG WFAIRGVVLL PGIEVPDLPP RKPHDCVPTR ADRIALLEGF NFHWRDWTYR DAVTPQERYS EEQKAYFSTP PAQRLALLGL AQPSEKPSSP SPDLPFTTPA PKKPGNPSRA RSWLSPRVSP PASPGP