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Gene Review

PMM1  -  phosphomannomutase 1

Homo sapiens

Synonyms: PMM 1, PMMH-22, PMMH22, Phosphomannomutase 1, Sec53
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Disease relevance of PMM1


High impact information on PMM1


Chemical compound and disease context of PMM1


Biological context of PMM1

  • 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 [2].
  • We have cloned the human homologue of SEC53 or yeast phosphomannomutase (HGMW-approved symbol PMM1) from a liver cDNA library [8].
  • Six of the nine patients with mild presentations were compound heterozygotes for the C241S mutation, which is known to reduce PMM activity by only approximately 2-fold [10].
  • Determination of the enzyme activity and mRNA expression indicated that acetaldehyde showed competitive type inhibition of phosphomannomutase activity but not suppression of phosphomannomutase gene expression [3].
  • A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency [11].

Anatomical context of PMM1


Associations of PMM1 with chemical compounds


Other interactions of PMM1


Analytical, diagnostic and therapeutic context of PMM1


  1. Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes. Pirard, M., Achouri, Y., Collet, J.F., Schollen, E., Matthijs, G., Van Schaftingen, E. Biochem. J. (1999) [Pubmed]
  2. 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. Schollen, E., Pardon, E., Heykants, L., Renard, J., Doggett, N.A., Callen, D.F., Cassiman, J.J., Matthijs, G. Hum. Mol. Genet. (1998) [Pubmed]
  3. Acetaldehyde-induced growth retardation and micro-heterogeneity of the sugar chain in transferrin synthesized by HepG2 cells. Searashi, Y., Yamauchi, M., Sakamoto, K., Ohata, M., Asakura, T., Ohkawa, K. Alcohol. Clin. Exp. Res. (2002) [Pubmed]
  4. A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia. Tayebi, N., Andrews, D.Q., Park, J.K., Orvisky, E., McReynolds, J., Sidransky, E., Krasnewich, D.M. Am. J. Med. Genet. (2002) [Pubmed]
  5. Detailed kinetic studies of an aggregating inhibitor; inhibition of phosphomannomutase/phosphoglucomutase by disperse blue 56. Liu, H.Y., Wang, Z., Regni, C., Zou, X., Tipton, P.A. Biochemistry (2004) [Pubmed]
  6. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Matthijs, G., Schollen, E., Pardon, E., Veiga-Da-Cunha, M., Jaeken, J., Cassiman, J.J., Van Schaftingen, E. Nat. Genet. (1997) [Pubmed]
  7. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide. Burda, P., Borsig, L., de Rijk-van Andel, J., Wevers, R., Jaeken, J., Carchon, H., Berger, E.G., Aebi, M. J. Clin. Invest. (1998) [Pubmed]
  8. PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. Matthijs, G., Schollen, E., Pirard, M., Budarf, M.L., Van Schaftingen, E., Cassiman, J.J. Genomics (1997) [Pubmed]
  9. Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. Kjaergaard, S., Skovby, F., Schwartz, M. Eur. J. Hum. Genet. (1999) [Pubmed]
  10. High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). Grünewald, S., Schollen, E., Van Schaftingen, E., Jaeken, J., Matthijs, G. Am. J. Hum. Genet. (2001) [Pubmed]
  11. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. Westphal, V., Kjaergaard, S., Schollen, E., Martens, K., Grunewald, S., Schwartz, M., Matthijs, G., Freeze, H.H. Hum. Mol. Genet. (2002) [Pubmed]
  12. Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping. Vuillaumier-Barrot, S., Barnier, A., Cuer, M., Durand, G., Grandchamp, B., Seta, N. Hum. Mutat. (1999) [Pubmed]
  13. Cloning and characterization of human phosphomannomutase, a mammalian homologue of yeast SEC53. Hansen, S.H., Frank, S.R., Casanova, J.E. Glycobiology (1997) [Pubmed]
  14. Prenatal diagnosis in CDG1 families: beware of heterogeneity. Matthijs, G., Schollen, E., Cassiman, J.J., Cormier-Daire, V., Jaeken, J., van Schaftingen, E. Eur. J. Hum. Genet. (1998) [Pubmed]
  15. A new class of phosphotransferases phosphorylated on an aspartate residue in an amino-terminal DXDX(T/V) motif. Collet, J.F., Stroobant, V., Pirard, M., Delpierre, G., Van Schaftingen, E. J. Biol. Chem. (1998) [Pubmed]
  16. Defect of N-glycosylation is not directly related to congenital disorder of glycosylation Ia fibroblast sensitivity to staurosporine-induced cell death. Lavieu, G., Frénoy, J.P., Codogno, P., Botti, J. Pediatr. Res. (2005) [Pubmed]
  17. Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. Imtiaz, F., Worthington, V., Champion, M., Beesley, C., Charlwood, J., Clayton, P., Keir, G., Mian, N., Winchester, B. J. Inherit. Metab. Dis. (2000) [Pubmed]
  18. Purification, separation and characterization of phosphoglucomutase and phosphomannomutase from maize leaves. Popova, T.N., Matasova, L.V., Lapot'ko, A.A. Biochem. Mol. Biol. Int. (1998) [Pubmed]
  19. Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection. Orvisky, E., Stubblefield, B., Long, R.T., Martin, B.M., Sidransky, E., Krasnewich, D. Anal. Biochem. (2003) [Pubmed]
  20. Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation. Neumann, L.M., von Moers, A., Kunze, J., Blankenstein, O., Marquardt, T. Eur. J. Pediatr. (2003) [Pubmed]
  21. Structure of Leishmania mexicana Phosphomannomutase Highlights Similarities with Human Isoforms. Kedzierski, L., Malby, R.L., Smith, B.J., Perugini, M.A., Hodder, A.N., Ilg, T., Colman, P.M., Handman, E. J. Mol. Biol. (2006) [Pubmed]
  22. Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib. Li, Y., Ogata, Y., Freeze, H.H., Scott, C.R., Turecek, F., Gelb, M.H. Anal. Chem. (2003) [Pubmed]
  23. Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency. Pohl, S., Hoffmann, A., Rüdiger, A., Nimtz, M., Jaeken, J., Conradt, H.S. Glycobiology (1997) [Pubmed]
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