• Gert Matthijs
  • Emile Van Schaftingen


The mannose donor during synthesis of the core oligosaccharide in the endoplasmic reticulum (ER) is GDP-α-mannose (GDP-Man). This activated mannose is generated in the cytosol from α-D-mannose-1-P (Man-1-P) and GTP by a specific pyrophosphorylase. Man-1-P originates from Glc-6-P through the action of three enzymes. Phosphoglucose isomerase (PGI) catalyzes the reversible conversion of Glc-6-P to Fru-6-P, and phosphomannose isomerase (PMI or MPI) catalyzes that of Fru-6-P to Man-6-P. Phosphomannomutase (PMM) is required for the formation of Man-1-P from Man-6-P.


Xanthomonas Campestris Phosphoglucose Isomerase Core Oligosaccharide Phosphomannose Isomerase Haloacid Dehalogenase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Aravind L, Galperin MY, Koonin EV (1998) The catalytic domain of the P-type ATPase has the haloacid dehalogenase fold. Trends Biochem Sci 23:127–129PubMedCrossRefGoogle Scholar
  2. Bernstein M, Hoffmann W, Ammerer G, Schekman R (1985) Characterization of a gene product (Sec53p) required for protein assembly in the yeast endoplasmic reticulum. J Cell Biol 101:2374–2382PubMedCrossRefGoogle Scholar
  3. Collet JF, Stroobant V, Pirard M, Delpierre G, Van Schaftingen E (1998) A new class of phosphotransferases phosphorylated on an aspartate residue in a DXDXT/V motif. J Biol Chem 273:14107–14112PubMedCrossRefGoogle Scholar
  4. Guha SK, Rose ZB (1985) The synthesis of mannose 1-phosphate in brain. Arch Biochem Biophys 243:168–173PubMedCrossRefGoogle Scholar
  5. Hansen SH, Frank SR, Casanova JE (1997) Cloning and characterization of human phosphomannomutase, a mammalian homologue of yeast SEC53. Glycobiology 7:829–834PubMedCrossRefGoogle Scholar
  6. Jaeken J, Artigas J, Barone R, Fiumara A, de Koning TJ, Poll-The BT, de Rijk-van Andel JF, Hoffmann GF, Assmann B, Mayatepek E, Pineda M, Vilaseca MA, Saudubray JM, Schlüter B, Wevers R, Van Schaftingen E (1997) Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. J Inherit Metab Dis 20:447–449PubMedCrossRefGoogle Scholar
  7. Jaeken J, Matthijs G, Carchon H, Van Schaftingen E (2001) Defects of N-glycan synthesis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill New York 1601–1622Google Scholar
  8. Kepes F, Schekman R (1988) The yeast SEC53 gene encodes phosphomannomutase. J Biol Chem 263:9155–9161PubMedGoogle Scholar
  9. Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B (2000) Mutation update: mutations in PMM2 cause congenital disorders of glycosylation, type la (CDG-Ia). Hum Mutat 16:386–394PubMedCrossRefGoogle Scholar
  10. Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman J-J, Van Schaftingen E (1997a) Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet 16:88–92PubMedCrossRefGoogle Scholar
  11. Matthijs G, Schollen EM, Budarf ML, Van Schaftingen E, Cassiman J-J (1997b) PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. Genomics 40:41–47PubMedCrossRefGoogle Scholar
  12. Panneerselvam K, Freeze HH (1996) Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. J Clin Invest 97:1478–1487PubMedCrossRefGoogle Scholar
  13. Pirard M, Collet JF, Matthijs G, Van Schaftingen E (1997) Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells. FEBS Lett 411:251–254PubMedCrossRefGoogle Scholar
  14. Pirard M, Achouri Y, Collet JF, Schollen E, Matthijs G, Van Schaftingen E (1999a) Kinetic properties and tissular distribution of mammalian phosphomannomutases isozymes. Biochem J 339:201–207PubMedCrossRefGoogle Scholar
  15. Pirard M, Matthijs G, Heykants L, Schollen E, Grünewald S, Jaeken J, Van Schaftingen E (1999b) Effects of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. FEBS Lett 452:319–322PubMedCrossRefGoogle Scholar
  16. Schollen E, Pardon E, Heykants L, Renard J, Doggett NA, Callen DF, Cassiman JJ, Matthijs G (1998) Comparative analysis of the phosphomannomutase genes PMM1,PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene. Hum Mol Genet 7:157–164PubMedCrossRefGoogle Scholar
  17. Van Schaftingen E, Jaeken J (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377:318–320PubMedCrossRefGoogle Scholar
  18. Yamashita K, Ideo H, Ohkura T, Fukushima K, Yuasa I, Ohno K, Takeshita K (1993) Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome: evidence of asparagine-N-linked oligosaccharide transfer deficiency. J Biol Chem 268:5783–5789PubMedGoogle Scholar

Copyright information

© Springer Japan 2002

Authors and Affiliations

  • Gert Matthijs
    • 1
  • Emile Van Schaftingen
    • 2
  1. 1.Center for Human GeneticsUniversity of LeuvenUZGasthuisbergBelgium
  2. 2.Laboratory of Physiological ChemistryInternational Institute of Cellular and Molecular Pathology and University of LouvainBrusselsBelgium

Personalised recommendations