MMACHC (NM_015506) Human Recombinant Protein

CAT#: TP323846

Recombinant protein of human methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (MMACHC)

Product Images

Coomassie blue staining of purified MMACHC protein (Cat# TP323846). The protein was produced from HEK293T cells transfected with MMACHC cDNA clone (Cat# RC223846) using MegaTran 2.0 (Cat# TT210002).

Specifications

Product Data

• Species: Human
• Expression Host: HEK293T
• Expression cDNA Clone or AA Sequence:
  Protein Sequence

  Recombinant protein was produced with TrueORF clone, RC223846. Click on the TrueORF clone link to view cDNA and protein sequences.
• Tag: C-Myc/DDK
• Predicted MW: 31.5 kDa
• Concentration: >50 ug/mL as determined by microplate BCA method
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Buffer: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
• Preparation: Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps.
• Storage: Store at -80°C.
• Stability: Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.

Reference Data

• RefSeq: NP_056321
• Locus ID: 25974
• UniProt ID: Q9Y4U1
• Cytogenetics: 1p34.1
• Refseq Size: 2247
• Refseq ORF: 846
• Synonyms: cblC
• Summary: 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]