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Gene Review

PGM1  -  phosphoglucomutase 1

Homo sapiens

Synonyms: CDG1T, GSD14, Glucose phosphomutase 1, PGM 1, Phosphoglucomutase-1
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Disease relevance of PGM1


Psychiatry related information on PGM1


High impact information on PGM1


Chemical compound and disease context of PGM1


Biological context of PGM1


Anatomical context of PGM1


Associations of PGM1 with chemical compounds


Physical interactions of PGM1


Regulatory relationships of PGM1


Other interactions of PGM1

  • Of the two prokaryotic/eukaryotic lineages, one contained bacterial, yeast, slimemold, invertebrate, and vertebrate homologs to human PGM1 and the second contained likely homologs to human PGM2 [31].
  • This is in direct conflict with the regional assignments of ACADM to 1p31 by in situ hybridization and of PGM1 to 1p22.1 by somatic cell studies [32].
  • In addition, the well-known A variant of ACP1, the Duarte variant of GALT, the 2 variant of Hp and the 2 variant of PGM1 occurred in polymorphic proportions in all three tribes, and the TFDChi variant was present as a polymorphism in the Baniwa [33].
  • The organisation of the PGM-RP gene is essentially identical to that of PGM1 [34].
  • The gene frequencies observed are: PGM1/1: 0.715, AK1: 0.962 AND ADA1: 0.940 [35].

Analytical, diagnostic and therapeutic context of PGM1


  1. Macrophage specificity of three anti-CD68 monoclonal antibodies (KP1, EBM11, and PGM1) widely used for immunohistochemistry and flow cytometry. Kunisch, E., Fuhrmann, R., Roth, A., Winter, R., Lungershausen, W., Kinne, R.W. Ann. Rheum. Dis. (2004) [Pubmed]
  2. Accessory cells in Crohn's disease of the terminal ileum. Sarsfield, P., Jones, D.B., Wright, D.H. Histopathology (1996) [Pubmed]
  3. Group systems of serum proteins and erythrocyte enzymes in malignant lymphoma. Nowicka, J., Schlesinger, D., Hałasa, J., Mańczak, M. Folia Haematol. Int. Mag. Klin. Morphol. Blutforsch. (1978) [Pubmed]
  4. Isoenzymes of hexokinase, 6-phosphogluconate dehydrogenase, phosphoglucomutase and lactate dehydrogenase in uterine cancer. Marshall, M.J., Neal, F.E., Goldberg, D.M. Br. J. Cancer (1979) [Pubmed]
  5. Serum protein and red cell enzyme polymorphisms in affective disorders. Beckman, G., Beckman, L., Cedergren, B., Perris, C., Strandman, E. Hum. Hered. (1978) [Pubmed]
  6. Erythrocyte phosphoglucomutase activity of bipolar I patients currently using lithium or carbamazepine. Montero-Lomelí, M., Galvão, D., Morais, B.B., Nardi, A.E. Braz. J. Med. Biol. Res. (2007) [Pubmed]
  7. Phosphoglucomutase: evidence for a new locus expressed in human milk. Cantu, J.M., Ibarra, B. Science (1982) [Pubmed]
  8. Human neoplastic and normal cells in tissue culture. I. Cell lines derived from malignant melanomas and normal melanocytes. Glovanella, B.C., Stehlin, J.S., Santamaria, C., Yim, S.O., Morgan, A.C., Williams, L.J., Leibovitz, A., Fialkow, P.J., Mumford, D.M. J. Natl. Cancer Inst. (1976) [Pubmed]
  9. Thioredoxin-linked processes in cyanobacteria are as numerous as in chloroplasts, but targets are different. Lindahl, M., Florencio, F.J. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  10. Cloning and sequencing of parafusin, a calcium-dependent exocytosis-related phosphoglycoprotein. Subramanian, S.V., Wyroba, E., Andersen, A.P., Satir, B.H. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  11. The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination. March, R.E., Putt, W., Hollyoake, M., Ives, J.H., Lovegrove, J.U., Hopkinson, D.A., Edwards, Y.H., Whitehouse, D.B. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  12. Isoenzyme characterization of Leishmania isolated from human cases with localized cutaneous leishmaniasis from the State of Campeche, Yucatan Peninsula, Mexico. Canto-Lara, S.B., Cardenas-Maruffo, M.F., Vargas-Gonzalez, A., Andrade-Narvaez, F. Am. J. Trop. Med. Hyg. (1998) [Pubmed]
  13. Resistance to falciparum malaria among adults in central Sudan. Bayoumi, R.A., Bashir, A.H., Abdulhadi, N.H. Am. J. Trop. Med. Hyg. (1986) [Pubmed]
  14. Infantile muscle glycogen storage disease: phosphoglucomutase deficiency with decreased muscle and serum carnitine levels. Sugie, H., Kobayashi, J., Sugie, Y., Ichimura, M., Miyamoto, R., Ito, T., Shimizu, K., Igarashi, Y. Neurology (1988) [Pubmed]
  15. Role of phosphoglucomutase of Stenotrophomonas maltophilia in lipopolysaccharide biosynthesis, virulence, and antibiotic resistance. McKay, G.A., Woods, D.E., MacDonald, K.L., Poole, K. Infect. Immun. (2003) [Pubmed]
  16. Identification of allergens responsible for canine cutaneous adverse food reactions to lamb, beef and cow's milk. Martín, A., Sierra, M.P., González, J.L., Arévalo, M.A. Vet. Dermatol. (2004) [Pubmed]
  17. Phosphoglucomutase 1: complete human and rabbit mRNA sequences and direct mapping of this highly polymorphic marker on human chromosome 1. Whitehouse, D.B., Putt, W., Lovegrove, J.U., Morrison, K., Hollyoake, M., Fox, M.F., Hopkinson, D.A., Edwards, Y.H. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  18. Mapping recombination hotspots in human phosphoglucomutase (PGM1). Yip, S.P., Lovegrove, J.U., Rana, N.A., Hopkinson, D.A., Whitehouse, D.B. Hum. Mol. Genet. (1999) [Pubmed]
  19. Proteinuria and tubulointerstitial lesions in lupus nephritis. Hill, G.S., Delahousse, M., Nochy, D., Mandet, C., Bariéty, J. Kidney Int. (2001) [Pubmed]
  20. Molecular and cytological investigations of phosphoglucomutase (PGM1) in the K562 cell line. Tomkins, J., Fox, M., Lovegrove, J.U., Parrington, J., Hopkinson, D.A., Whitehouse, D.B. Ann. Hum. Genet. (1997) [Pubmed]
  21. Antigenic analysis of the major human phosphoglucomutase isozymes: PGM1, PGM2, PGM3 and PGM4. Drago, G.A., Hopkinson, D.A., Westwood, S.A., Whitehouse, D.B. Ann. Hum. Genet. (1991) [Pubmed]
  22. Red cell phosphoglucomutase (PGM)-deficiency: hereditary defect of the PGM1-locus. Gahr, M., Schröter, W. Eur. J. Pediatr. (1981) [Pubmed]
  23. Expression of the human adenylate kinase isozymes, phosphopyruvate hydratase, 6-phosphogluconate dehydrogenase, and phosphoglucomutase-1 in man-rodent somatic cell hybrids. Bruns, G.A., Gerald, P.S. Biochem. Genet. (1976) [Pubmed]
  24. A linkage study of the loci for Huntington's disease and some common polymorphic markers. Brackenridge, C.J., Case, J., Chiu, E., Propert, D.N., Teltscher, B., Wallace, D.C. Ann. Hum. Genet. (1978) [Pubmed]
  25. Human erythrocyte phosphoglucomutase: comparison of the kinetic properties of PGM1 and PGM2 isoenzymes. Ninfali, P., Accorsi, A., Palma, F., Fazi, A., Piatti, E., Chiarantini, L., Fornaini, G. Biochimie (1984) [Pubmed]
  26. Non-equilibrium pH gradient electrophoresis (NEPHGE) on ultrathin polyacrylamide gels containing separators: improved erythrocyte phosphoglucomutase (PGM) and esterase D (EsD) diagnosis in red cell lysates and bloodstains. Destro-Bisol, G., Spinella, A. Forensic Sci. Int. (1989) [Pubmed]
  27. Purification and partial characterization of the phosphoglucomutase isozymes from human placenta. Fazi, A., Piacentini, M.P., Piatti, E., Accorsi, A. Prep. Biochem. (1990) [Pubmed]
  28. Phosphoglucomutase1 (PGM1) and 6-phosphogluconate dehydrogenase (PGD) types in the human hairbulb. Oya, M., Ito, H., Kido, A., Suzuki, O., Katsumata, Y., Yada, S. Forensic science. (1978) [Pubmed]
  29. Identification of an S100A1/S100B target protein: phosphoglucomutase. Landar, A., Caddell, G., Chessher, J., Zimmer, D.B. Cell Calcium (1996) [Pubmed]
  30. Identification of human calphoglin-induced phosphoglucomutase phosphorylation in Escherichia coli. Ingi, T., Mori, H., Inuzuka, M. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. (2005) [Pubmed]
  31. A phylogenetic approach to the identification of phosphoglucomutase genes. Whitehouse, D.B., Tomkins, J., Lovegrove, J.U., Hopkinson, D.A., McMillan, W.O. Mol. Biol. Evol. (1998) [Pubmed]
  32. The locus for the medium-chain acyl-CoA dehydrogenase gene on chromosome 1 is highly polymorphic. Kidd, J.R., Matsubara, Y., Castiglione, C.M., Tanaka, K., Kidd, K.K. Genomics (1990) [Pubmed]
  33. Electrophoretic variants in three Amerindian tribes: the Baniwa, Kanamari, and Central Pano of western Brazil. Mohrenweiser, H., Neel, J.V., Mestriner, M.A., Salzano, F.M., Migliazza, E., Simões, A.L., Yoshihara, C.M. Am. J. Phys. Anthropol. (1979) [Pubmed]
  34. A novel dystrophin/utrophin-associated protein is an enzymatically inactive member of the phosphoglucomutase superfamily. Moiseeva, E.P., Belkin, A.M., Spurr, N.K., Koteliansky, V.E., Critchley, D.R. Eur. J. Biochem. (1996) [Pubmed]
  35. Polymorphism of red cell phosphoglucomutase, adenylate kinase and adenosine deaminase in a Polish population. Turowska, B. Hum. Hered. (1975) [Pubmed]
  36. Review of isoelectric focusing for Gc, PGM1, Tf, and Pi subtypes: population distributions. Dykes, D.D., Polesky, H.F. Critical reviews in clinical laboratory sciences. (1984) [Pubmed]
  37. Phosphoglucomutase phenotypes and prenatal selection. Studies of spontaneous and induced abortions. Beckman, G., Beckman, L. Hum. Hered. (1975) [Pubmed]
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