Recombinant Human Ethylmalonic Aciduria (cobalamin deficiency) cblC Type, with Homocystinuria, His-tagged

• Cat.No.: MMACHC-6797H
• Product Overview: Recombinant humanMMACHC protein, fused to His-tag at N-terminus, was expressed in E.coli andpurified by using conventional chromatography techniques

Specification

• Cat. No.: MMACHC-6797H
• Description: The exact functionof MMACHC is not known, however, its C-terminal region shows similarity toTonB, a bacterial protein involved in energy transduction for cobalamin(vitamin B12) uptake. Hence, it is postulated that this protein may have arole in the binding and intracellular trafficking of cobalamin. Mutations inthis protein are associated with methylmalonic aciduria and homocystinuriatype cblC
• Form: Liquid. In 20mMTris-HCl buffer (pH 8.0) containing 0.15M NaCl, 10% glycerol, 1mM DTT
• Molecular Weight: 34 kDa (306aa),confirmed by MALDI-TOF
• Purity: > 90% by SDS -PAGE
• Concentration: 0.5 mg/ml(determined by Bradford assay)
• Sequences of aminoacids: MGSSHHHHHHSSGLVPRGSH MGSHMEPKVA ELKQKIEDTL CPFGFEVYPF QVAWYNELLP PAFHLPLPGP TLAFLVLSTPAMFDRALKPF LQSCHLRMLT DPVDQCVAYH LGRVRESLPE LQIEIIADYE VHPNRRPKIL AQTAAHVAGAAYYYQRQDVE ADPWGNQRIS GVCIHPRFGG WFAIRGVVLL PGIEVPDLPP RKPHDCVPTR ADRIALLEGFNFHWRDWTYR DAVTPQERYS EEQKAYFSTP PAQRLALLGL AQPSEKPSSP SPDLPFTTPA PKKPGNPSRARSWLSPRVSP PASPGP
• Storage: Can be stored at+4°C short term (1-2 weeks). For long term storage, aliquot and store at-20°C or -70°C. Avoid repeated freezing and thawing cycles.

Gene Information

• Gene Name: MMACHCmethylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria[ Homo sapiens ]
• Official Symbol: MMACHC
• Synonyms: MMACHC; methylmalonic aciduria(cobalamin deficiency) cblC type, with homocystinuria; methylmalonic aciduriaand homocystinuria type C protein; cblC; DKFZP564I122; cblC; 1810037K07Rik;BOS_3654; DKFZp564I122; FLJ25671; Methylmalonic aciduria (cobalamindeficiency) cblC type with homocystinuria; Methylmalonic aciduria andhomocystinuria type C protein; Methylmalonic aciduria and homocystinuria typeC protein homolog; MGC134307; OTTHUMP00000009243; RP11 291L19.3;RP23-177C18.3; RP11-291L19.3
• Gene ID: 25974
• mRNA Refseq: NM_015506
• Protein Refseq: NP_056321
• MIM: 609831
• Uniprot ID: Q9Y4U1
• Chromosome Location: 1p34.1
• Pathway: Vitamin digestion and absorption,organism-specific biosystem; Vitamin digestion and absorption, conservedbiosystem
• Function: cobalamin binding