MMACHC (NM_015506) Human Recombinant Protein

• Background:

  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]

• Synonyms:

  CblC

• Gene ID:

  25974

• UniProt:

  Q9Y4U1

• Accession Number mRNA:

  NM_015506

• Chromosomal Location:

  1p34.1

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Molecular Weight:

  31.5 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  MMACHC

• Species:

  Human

• Protein ID:

  NP_056321

• Overview:

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

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/25974

• Uniprot URL:

  https://www.uniprot.org/uniprot/Q9Y4U1

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_015506

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_056321