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Human Phosphomannomutase 2 / PMM2 / CDG1 Protein (His Tag)

CDG1,CDG1a,CDGS,PMI,PMI1,PMM2

Catalog Number P14648-H07E
Organism Species Human
Host E. coli
Synonyms CDG1,CDG1a,CDGS,PMI,PMI1,PMM2
Molecular Weight The recombinant human PMM2 consists of 261 amino acids and predicts a molecular mass of 29.9 KDa. It migrates as an approximately 28 KDa band in SDS-PAGE under reducing conditions.
predicted N His
SDS-PAGE
Purity > 95 % as determined by SDS-PAGE
Protein Construction A DNA sequence encoding the human PMM2 (O15305) (Met1-Ser246) was expressed with a polyhistidine tag at the N-terminus.
Bio-activity
Research Area Developmental Biology |Metabolism |Types of disease |Metabolism in Cancer
Formulation Lyophilized from sterile 20mM Tris,100mM NaCl, 10% Glycerol, pH 8.0.
1. Normally 5 % - 8 % trehalose and mannitol are added as protectants before lyophilization. Specific concentrations are included in the hardcopy of COA.
Background Phosphomannomutase 2, also known as PMM2 and CDG1, belongs to the eukaryotic PMM family. Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mannose 1-phosphate is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. GDP-mannose can transfer its small sugar molecule called mannose to the growing oligosaccharide chain. Once the correct number of small sugar molecules are linked together to form the oligosaccharide, it can be attached to a protein. Phosphomannomutase 2 is also required for a number of critical mannosyl transfer reactions. Mutations in PMM2 gene have been shown to cause defects in the protein glycosylation pathway manifest as carbohydrate-deficient glycoprotein syndrome type I.
Reference
  • Jaeken J. et al., 2002, Annual review of genomics and human genetics. 2: 129-51.
  • Matthijs G. et al., 2000, Mol Genet Metab. 68 (2): 220-6.
  • Matthijs G. et al., 1997, Nat Genet. 16 (1): 88-92.