Phosphomannomutase 2 (PMM2) (AA 1-246) protein (His tag)
Description
Phosphomannomutase 2 (PMM2) is a member of the eukaryotic PMM family. Phosphomannomutase 2 is involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. PMM2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. PMM2 mutations are linked to congenital disorders of glycosylation (CDG)-Ia, an autosomal recessive disorder characterized by central nervous system dysfunction and multiorgan failure Synonyms: Phosphomannomutase 2, PMM 2, PMM2, CDG1, CDGS, CDG1a