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Gene Review

GALK1  -  galactokinase 1

Homo sapiens

Synonyms: GALK, GK1, Galactokinase, Galactose kinase, HEL-S-19
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Disease relevance of GALK1


Psychiatry related information on GALK1


High impact information on GALK1

  • We have cloned the human galactokinase cDNA, which maps to chromosome 17q24, and show that the isolated cDNA expresses galactokinase activity in bacteria and mammalian cells [2].
  • A key regulatory enzyme of hepatic glucose assimilation, glucokinase, is diminished in newborns compared to adults, whereas galactokinase activity is increased [7].
  • Cloning and characterization of all three human galactose-metabolic genes (GALK, GALT and GALE) has led to the identification of a number of mutations which are generally of the missense type in patients with galactosemia, an inborn error of metabolism [8].
  • The founder Romani mutation identified in this study is a single nucleotide substitution in GK1 resulting in the replacement of the conserved proline residue at amino acid position 28 with threonine (P28T) [9].
  • Newborn screening data suggest that the gene frequency is very low worldwide but is higher among the Roma in Europe. Since the cloning of the galactokinase gene (GK1) in 1995, only two disease-causing mutations, both confined to single families, have been identified [9].

Chemical compound and disease context of GALK1


Biological context of GALK1


Anatomical context of GALK1


Associations of GALK1 with chemical compounds


Other interactions of GALK1


Analytical, diagnostic and therapeutic context of GALK1

  • Analysis by 5'-RACE PCR indicates that the GALK1 mRNA is heterogeneous at the 5' terminus, with transcription sites occurring at many locations between 21 and 61 bp upstream of the ATG start site of the coding region [14].
  • Northern blot analysis indicated that both cDNAs were transcribed into mRNA transcripts of the expected size; however, only the GALK1 cDNA produced high levels of galactokinase activity [18].
  • Here we present the results of a study of six affected Romani families from Bulgaria, where index patients with galactokinase deficiency have been detected by the mass screening [9].
  • Using radiation hybrid mapping, we have shown that GK1 is located in this region [9].
  • We propose that neonatal screening of populations with a significant proportion of Bosnians and possibly other southeastern Europeans, e.g. Romani, should be particularly directed toward GALK deficiency, an inborn error of metabolism that is readily amenable to effective treatment [29].


  1. Functional analysis of disease-causing mutations in human galactokinase. Timson, D.J., Reece, R.J. Eur. J. Biochem. (2003) [Pubmed]
  2. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Stambolian, D., Ai, Y., Sidjanin, D., Nesburn, K., Sathe, G., Rosenberg, M., Bergsma, D.J. Nat. Genet. (1995) [Pubmed]
  3. Molecular structure of human galactokinase: implications for type II galactosemia. Thoden, J.B., Timson, D.J., Reece, R.J., Holden, H.M. J. Biol. Chem. (2005) [Pubmed]
  4. Galactose metabolism and reproductive history in women with type 1 neurofibromatosis. Cramer, D.W., Korf, B.R., Fortier, L.J. Am. J. Med. Genet. (1991) [Pubmed]
  5. Molecular characterization of galactokinase deficiency in Japanese patients. Asada, M., Okano, Y., Imamura, T., Suyama, I., Hase, Y., Isshiki, G. J. Hum. Genet. (1999) [Pubmed]
  6. Galactokinase deficiency and mental retardation. Segal, S., Rutman, J.Y., Frimpter, G.W. J. Pediatr. (1979) [Pubmed]
  7. Potential role of galactokinase in neonatal carbohydrate assimilation. Kliegman, R.M., Miettinen, E.L., Morton, S. Science (1983) [Pubmed]
  8. The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry. Petry, K.G., Reichardt, J.K. Trends Genet. (1998) [Pubmed]
  9. A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Kalaydjieva, L., Perez-Lezaun, A., Angelicheva, D., Onengut, S., Dye, D., Bosshard, N.U., Jordanova, A., Savov, A., Yanakiev, P., Kremensky, I., Radeva, B., Hallmayer, J., Markov, A., Nedkova, V., Tournev, I., Aneva, L., Gitzelmann, R. Am. J. Hum. Genet. (1999) [Pubmed]
  10. Sugar recognition by human galactokinase. Timson, D.J., Reece, R.J. BMC Biochem. (2003) [Pubmed]
  11. Coregulation of the human O6-methylguanine-DNA methyltransferase with two unrelated genes that are closely linked. Karran, P., Stephenson, C., Macpherson, P., Cairns-Smith, S., Priestley, A. Cancer Res. (1990) [Pubmed]
  12. Molecular functions of conserved aspects of the GHMP kinase family. Andreassi, J.L., Leyh, T.S. Biochemistry (2004) [Pubmed]
  13. Excretion of galactitol in the urine of heterozygotes of both forms of galactosemia. Sitzmann, F.C., Schmid, R.D., Kaloud, H. Clin. Chim. Acta (1977) [Pubmed]
  14. Fine structure of the human galactokinase GALK1 gene. Bergsma, D.J., Ai, Y., Skach, W.R., Nesburn, K., Anoia, E., Van Horn, S., Stambolian, D. Genome Res. (1996) [Pubmed]
  15. Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population. Maraini, G., Hejtmancik, J.F., Shiels, A., Mackay, D.S., Aldigeri, R., Jiao, X.D., Williams, S.L., Sperduto, R.D., Reed, G. Mol. Vis. (2003) [Pubmed]
  16. Evaluation of cGMP-phosphodiesterase (PDE) subunits for causal association with rod-cone dysplasia 2 (rcd2), a canine model of abnormal retinal cGMP metabolism. Wang, W., Acland, G.M., Ray, K., Aguirre, G.D. Exp. Eye Res. (1999) [Pubmed]
  17. The molecular architecture of human N-acetylgalactosamine kinase. Thoden, J.B., Holden, H.M. J. Biol. Chem. (2005) [Pubmed]
  18. Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2. Ai, Y., Basu, M., Bergsma, D.J., Stambolian, D. Biochem. Biophys. Res. Commun. (1995) [Pubmed]
  19. Novel mutations in 13 probands with galactokinase deficiency. Kolosha, V., Anoia, E., de Cespedes, C., Gitzelmann, R., Shih, L., Casco, T., Saborio, M., Trejos, R., Buist, N., Tedesco, T., Skach, W., Mitelmann, O., Ledee, D., Huang, K., Stambolian, D. Hum. Mutat. (2000) [Pubmed]
  20. Characterization of galactose-1-phosphate uridyl-transferase and galactokinase in human organs from the fetus and adult. Shin-Buehring, Y.S., Stuempfig, L., Pouget, E., Rahm, P., Schaub, J. Clin. Chim. Acta (1981) [Pubmed]
  21. Human erythrocyte galactokinase and galactose-1-phosphate uridylyltransferase: a population survey. Tedesco, T.A., Miller, K.L., Rawnsley, B.E., Mennuti, M.T., Spielman, R.S., Mellman, W.J. Am. J. Hum. Genet. (1975) [Pubmed]
  22. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Sangiuolo, F., Magnani, M., Stambolian, D., Novelli, G. Hum. Mutat. (2004) [Pubmed]
  23. Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast. Lee, R.T., Peterson, C.L., Calman, A.F., Herskowitz, I., O'Donnell, J.J. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  24. Platelet cell-surface protein disulphide-isomerase mediated S-nitrosoglutathione consumption. Root, P., Sliskovic, I., Mutus, B. Biochem. J. (2004) [Pubmed]
  25. Regional assignment of the human gene coding for a multifunctional polypeptide (P4HB) acting as the beta-subunit of prolyl 4-hydroxylase and the enzyme protein disulfide isomerase to 17q25. Pajunen, L., Jones, T.A., Goddard, A., Sheer, D., Solomon, E., Pihlajaniemi, T., Kivirikko, K.I. Cytogenet. Cell Genet. (1991) [Pubmed]
  26. Two familial cases of high blood galactose of unknown aetiology. Brunetti-Pierri, N., Opekun, A.R., Craigen, W.J. J. Inherit. Metab. Dis. (2006) [Pubmed]
  27. Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. Thoden, J.B., Wohlers, T.M., Fridovich-Keil, J.L., Holden, H.M. J. Biol. Chem. (2001) [Pubmed]
  28. Plasma polyol levels in patients with cataract. Jakobs, C., Douwes, A.C., Brockstedt, M., Stellaard, F., Endres, W., Shin, Y.S. J. Inherit. Metab. Dis. (1990) [Pubmed]
  29. An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening. Reich, S., Hennermann, J., Vetter, B., Neumann, L.M., Shin, Y.S., Söling, A., Mönch, E., Kulozik, A.E. Pediatr. Res. (2002) [Pubmed]
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