MMACHC recombinant protein

MMACHC, 1-282aa, Human, His tag, E Coli

Cat. Num. AAA204778

• Gene Names: MMACHC; cblC
• Applications: SDS-Page
• Purity: > 90% by SDS-PAGE
• Synonyms: MMACHC; 1-282aa; Human; His tag; E Coli; Methylmalonic aciduria and homocystinuria type C protein; RP11-291L19.3; cblC; MMACHC recombinant protein

• Host: E Coli
• Purity/Purification: > 90% by SDS-PAGE
• Form/Format: Liquid. In 20mM Tris-HCl Buffer (pH 8.0) containing 0.15M NaCl, 10% glycerol, 1mM DTT
• Concentration: 0.5 mg/ml (determined by Bradford assay) (varies by lot)
• Sequence: MGSSHHHHHH SSGLVPRGSH MGSHMEPKVA 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
• Sequence Length: 282

• Applicable Applications for MMACHC recombinant protein: SDS-PAGE
• Antigen Species: Human
• Tag Information: His-tag
• Preparation and Storage: 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.

SDS-Page

Related Product Information for MMACHC recombinant 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 Categories/Family for MMACHC recombinant protein

Signal Transduction

References

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.

NCBI and Uniprot Product Information

• NCBI GI #: 153070822
• NCBI GeneID: 25974
• NCBI Accession #: NP_056321
• NCBI GenBank Nucleotide #: NM_015506.2
• UniProt Accession #: Q9Y4U1; Q5T157; Q9BRQ7
• Molecular Weight: 34 kDa (306aa), confirmed by MALDI-TOF
• NCBI Official Full Name: methylmalonic aciduria and homocystinuria type C protein isoform 1
• NCBI Official Synonym Full Names: methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
• NCBI Official Symbol: MMACHC
• NCBI Official Synonym Symbols: cblC
• NCBI Protein Information: methylmalonic aciduria and homocystinuria type C protein
• UniProt Protein Name: Methylmalonic aciduria and homocystinuria type C protein
• Protein Family: MMACHC-like protein
• UniProt Gene Name: MMACHC

NCBI Description

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]

Uniprot Description

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).