Recombinant Human MMACHC Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: MMACHC-2311H
• Product Overview: MMACHC MS Standard C13 and N15-labeled recombinant protein (NP_056321) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Species: Human
• Source: HEK293
• Tag: Myc&DDK
• 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.
• Molecular Mass: 31.5 kDa
• AA Sequence: MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGPTRTRPLEQKLISEEDLAANDILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: MMACHC metabolism of cobalamin associated C [ Homo sapiens (human) ]
• Official Symbol: MMACHC
• Synonyms: MMACHC; methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria; methylmalonic aciduria and homocystinuria type C protein; cblC; DKFZP564I122; FLJ25671; RP11-291L19.3; DKFZp564I122
• Gene ID: 25974
• mRNA Refseq: NM_015506
• Protein Refseq: NP_056321
• MIM: 609831
• UniProt ID: Q9Y4U1