Recombinant human PMM2 protein

PMM2, also known as Phosphomannomutase 2, belongs to the eukaryotic PMM family. PMM2 is involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. It catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mutations in PMM2 are associated with Congenital disorders of glycosylation (CDG) -Ia, an autosomal recessive disorder characterized by central nervous system dysfunction and multiorgan failure. Recombinant human PMM2 protein, fused to His-tag at N-terminus, was expressed in E. coli and purified by using conventional chromatography techniques.