C2ORF25 (MMADHC) (NM_015702) Human Recombinant Protein

• Background:

  This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]

• Synonyms:

  C2orf25; cblD; CL25022

• Gene ID:

  27249

• UniProt:

  Q9H3L0

• Accession Number mRNA:

  NM_015702

• Chromosomal Location:

  2q23.2

• 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:

  32.8 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:

  MMADHC

• Species:

  Human

• Protein ID:

  NP_056517

• Overview:

  Recombinant protein of human methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC), nuclear gene encoding mitochondrial protein

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/27249

• Uniprot URL:

  https://www.uniprot.org/uniprot/Q9H3L0

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_015702

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_056517