Recombinant Human MMACHC Protein, GST-tagged

• Cat.No.: MMACHC-5405H
• Product Overview: Human MMACHC full-length ORF ( AAH06122.3, 1 a.a. - 225 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Species: Human
• Source: Wheat Germ
• Tag: GST
• 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]
• Molecular Mass: 51.7 kDa
• AA Sequence: MFDRALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP
• Applications: Antibody Production
  Functional Study
  Compound Screening
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria [ Homo sapiens ]
• 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