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Gene Review

GALT  -  galactose-1-phosphate uridylyltransferase

Homo sapiens

Synonyms: Gal-1-P uridylyltransferase, Galactose-1-phosphate uridylyltransferase, UDP-glucose--hexose-1-phosphate uridylyltransferase
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Disease relevance of GALT


Psychiatry related information on GALT


High impact information on GALT

  • Dramatic numerical increases in DC were detected in the bone marrow, gastro-intestinal lymphoid tissue (GALT), liver, lymph nodes, lung, peripheral blood, peritoneal cavity, spleen, and thymus [10].
  • 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 [11].
  • GALT protein abundance was increased in LA compared to D alleles, but mRNA was similar among all genotypes [12].
  • The characteristic Duarte isoform is also associated with a variant called the "Los Angeles (LA) phenotype," which has increased GALT enzyme activity [12].
  • We conclude that the codon change N314D in cis with the base-pair transition 1721C-->T produces the LA variant of galactosemia and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermal lability [12].

Chemical compound and disease context of GALT


Biological context of GALT

  • We conclude that the N314D mutation is a common allele that probably causes the Duarte GALT biochemical phenotype and occurs in a predominantly Caucasian, nongalactosemic population, with a prevalence of 5.9% [16].
  • However, we believe that, based on our results and other published evidence, the correct assignment of the human GALT locus is to chromosome 9 [17].
  • Human chromosome 9 was consistently present in the hybrid lines expressing human GALT and consistently absent in the lines not expressing it [17].
  • If common mutant alleles were not present, the 11 exons of the GALT gene were amplified by PCR, and variations from the normal nucleotide sequences were identified by SSCP [18].
  • We conclude that the synergism of pedigree, biochemical, SSCP, and direct GALT gene analyses is an efficient protocol for identifying new mutations and speculate that E203K and N314D codon changes produce intraallelic complementation when in cis [18].

Anatomical context of GALT

  • Surprisingly, her erythrocytes have normal GALT activity [18].
  • Chinese hamster-human somatic cell hybrids were analyzed for the expression of human galactose-1-phosphate uridyltransferase (GALT; UDPglucose:alpha-D-galactose-1-phosphate uridyltransferase, EC by electrophoresis and for the presence of human chromosomes cytogenetically with the aid of Q-banding [17].
  • GALT activity of the R231H mutant construct was reduced to 15% of normal controls in a COS cell expression system [19].
  • Further studies in the rabbit model are needed to determine the fates of emigrants from primary GALT, their sites of postulated self-renewal in the periphery, and the nature of secondary diversification in secondary germinal centers where populations of B lymphocyte memory cells may develop [20].
  • Demonstration of gene dosage effects for AK3 and GALT in fibroblasts from a fetus with 9p trisomy [21].

Associations of GALT with chemical compounds

  • A sequence of pedigree, biochemical, and molecular analyses of the galactose-1-phosphate uridyltransferase (GALT) enzyme and genetic locus in both affected and carrier individuals revealed three distinct base substitutions in this family, two (Q188R and S135L) that had been reported previously and one (V151A) that was novel [22].
  • Here we systematically determine (a) the prevalence of an A-to-G transition at base pair 2744 of exon 10 in the GALT gene, transition that produces a codon change converting asparagine to aspartic acid at position 314 (N314D), and (b) the association of this mutation with the Duarte biochemical phenotype [16].
  • We also present the molecular characterization of two GALT polymorphisms: (i) replacement of leucine-62 by methionine and (ii) replacement of asparagine-314 by aspartate [23].
  • Because lymphoid cells at both sites expressed mainly alpha 4 beta 7, this integrin may be a homing receptor on memory and effector cells bound for lamina propria as well as on naive lymphocytes extravasating in GALT [24].
  • Study of five haemogenetic markers (Gc, C3, Bf, Ag, and GALT) in six Indonesian populations and in 12 subgroups of Balinese [25].

Other interactions of GALT


Analytical, diagnostic and therapeutic context of GALT

  • CONCLUSIONS: The quantitative Beutler test can provide precise GALT activity in newborn mass screening, and can take into consideration the influence of high temperature and humidity, duration between sampling and testing, and anemia [31].
  • By flow cytometry, the proportion of dispersed CD19+ B lymphocytes varied from 4 to 42% among jejunal mucosal samples; between 5 and 50% of these were sIgD+, suggesting a variable contamination with GALT cells [27].
  • Human orythrocytes that are homozygous for the Duarte enzyme variant of galactosemia (D/D) have a characteristic isoform on isoelectric focusing and 50% reduction in galactose-1-phosphate uridyltransferase (GALT) enzyme activity [12].
  • Heterozygotes (GALTG/GALTA) for GALT galactosemia were distinguished by family studies and starch gel electrophoresis from individuals who have half-normal RBC GALT activity due to the GALTD allele [32].
  • Western blot analyses of the GALT proteins in these lysates demonstrated that abundance varied from 9-118% of wild-type and was independent of activity [33].


  1. Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Reichardt, J.K., Packman, S., Woo, S.L. Am. J. Hum. Genet. (1991) [Pubmed]
  2. Galactose-1-phosphate uridyl transferase (GALT) genotype and phenotype, galactose consumption, and the risk of borderline and invasive ovarian cancer (United States). Cozen, W., Peters, R., Reichardt, J.K., Ng, W., Felix, J.C., Wan, P., Pike, M.C. Cancer Causes Control (2002) [Pubmed]
  3. Microsatellite DNA assays reveal an allelic imbalance in p16(Ink4), GALT, p53, and APOA2 loci in patients with endometriosis. Goumenou, A.G., Arvanitis, D.A., Matalliotakis, I.M., Koumantakis, E.E., Spandidos, D.A. Fertil. Steril. (2001) [Pubmed]
  4. Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia. Shin, Y.S., Gathof, B.S., Podskarbi, T., Sommer, M., Giugliani, R., Gresser, U. Eur. J. Pediatr. (1996) [Pubmed]
  5. Abundant expression of granzyme A, but not perforin, in granules of CD8+ T cells in GALT: implications for immune control of HIV-1 infection. Shacklett, B.L., Cox, C.A., Quigley, M.F., Kreis, C., Stollman, N.H., Jacobson, M.A., Andersson, J., Sandberg, J.K., Nixon, D.F. J. Immunol. (2004) [Pubmed]
  6. Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency. Bresolin, N., Comi, G.P., Fortunato, F., Meola, G., Gallanti, A., Tajana, A., Velicogna, M., Gonano, E.F., Ninfali, P., Pifferi, S. J. Neurol. (1993) [Pubmed]
  7. Regulation of galactose-1-phosphate uridyltransferase gene expression. Heidenreich, R.A. Eur. J. Pediatr. (1995) [Pubmed]
  8. Classical galactosaemia in Chinese: A case report and review of disease incidence. Cheung, K.L., Tang, N.L., Hsiao, K.J., Law, L.K., Wong, W., Ng, P.C., Pang, C.P., Applegarth, D.A., Fok, T.F., Hjelm, N.M. Journal of paediatrics and child health. (1999) [Pubmed]
  9. The Galt Visiting Scholar in Public Mental Health: a review of a model of state-university collaboration. Yank, G.R., Fox, J.C., Davis, K.E. Community mental health journal. (1991) [Pubmed]
  10. Dramatic increase in the numbers of functionally mature dendritic cells in Flt3 ligand-treated mice: multiple dendritic cell subpopulations identified. Maraskovsky, E., Brasel, K., Teepe, M., Roux, E.R., Lyman, S.D., Shortman, K., McKenna, H.J. J. Exp. Med. (1996) [Pubmed]
  11. The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry. Petry, K.G., Reichardt, J.K. Trends Genet. (1998) [Pubmed]
  12. Molecular basis for Duarte and Los Angeles variant galactosemia. Langley, S.D., Lai, K., Dembure, P.P., Hjelm, L.N., Elsas, L.J. Am. J. Hum. Genet. (1997) [Pubmed]
  13. Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online. Seyrantepe, V., Ozguc, M., Coskun, T., Ozalp, I., Reichardt, J.K. Hum. Mutat. (1999) [Pubmed]
  14. The molecular relationship between deficient UDP-galactose uridyl transferase (GALT) and ceramide galactosyltransferase (CGT) enzyme function: a possible cause for poor long-term prognosis in classic galactosemia. Lebea, P.J., Pretorius, P.J. Med. Hypotheses (2005) [Pubmed]
  15. The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase. Lai, K., Willis, A.C., Elsas, L.J. J. Biol. Chem. (1999) [Pubmed]
  16. A common mutation associated with the Duarte galactosemia allele. Elsas, L.J., Dembure, P.P., Langley, S., Paulk, E.M., Hjelm, L.N., Fridovich-Keil, J. Am. J. Hum. Genet. (1994) [Pubmed]
  17. Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids. Mohandas, T., Sparkes, R.S., Sparkes, M.C., Shulkin, J.D. Proc. Natl. Acad. Sci. U.S.A. (1977) [Pubmed]
  18. Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Elsas, L.J., Langley, S., Steele, E., Evinger, J., Fridovich-Keil, J.L., Brown, A., Singh, R., Fernhoff, P., Hjelm, L.N., Dembure, P.P. Am. J. Hum. Genet. (1995) [Pubmed]
  19. Molecular characterization of galactosemia (type 1) mutations in Japanese. Ashino, J., Okano, Y., Suyama, I., Yamazaki, T., Yoshino, M., Furuyama, J., Lin, H.C., Reichardt, J.K., Isshiki, G. Hum. Mutat. (1995) [Pubmed]
  20. Rabbit appendix: a site of development and selection of the B cell repertoire. Pospisil, R., Mage, R.G. Curr. Top. Microbiol. Immunol. (1998) [Pubmed]
  21. Demonstration of gene dosage effects for AK3 and GALT in fibroblasts from a fetus with 9p trisomy. Steinbach, P., Benz, R. Hum. Genet. (1983) [Pubmed]
  22. Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family. Fridovich-Keil, J.L., Langley, S.D., Mazur, L.A., Lennon, J.C., Dembure, P.P., Elsas, J.L. Am. J. Hum. Genet. (1995) [Pubmed]
  23. Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. Reichardt, J.K., Woo, S.L. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  24. Distribution of beta 7 integrins in human intestinal mucosa and organized gut-associated lymphoid tissue. Farstad, I.N., Halstensen, T.S., Lien, B., Kilshaw, P.J., Lazarovits, A.I., Brandtzaeg, P., Lazarovitz, A.I. Immunology (1996) [Pubmed]
  25. Study of five haemogenetic markers (Gc, C3, Bf, Ag, and GALT) in six Indonesian populations and in 12 subgroups of Balinese. Scherz, R., Breguet, G., Ney, R., Pflugshaupt, R., Bütler, R. Am. J. Phys. Anthropol. (1988) [Pubmed]
  26. Genetic linkage analysis of dermo-distortive urticaria. Epstein, P.A., Kidd, K.K., Sparkes, R.S. Am. J. Med. Genet. (1981) [Pubmed]
  27. Immunoglobulin A cell distribution in the human small intestine: phenotypic and functional characteristics. Farstad, I.N., Carlsen, H., Morton, H.C., Brandtzaeg, P. Immunology (2000) [Pubmed]
  28. Role of endometriosis in cancer and tumor development. Swiersz, L.M. Ann. N. Y. Acad. Sci. (2002) [Pubmed]
  29. The genetic basis of endometriosis. Zondervan, K.T., Cardon, L.R., Kennedy, S.H. Current opinion in obstetrics & gynecology. (2001) [Pubmed]
  30. Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridylyltransferase on chromosome 9. Westerveld, A., Garver, J., Nijman, M.A., Pearson, P.L. Cytogenet. Cell Genet. (1978) [Pubmed]
  31. Quantitative Beutler test for newborn mass screening of galactosemia using a fluorometric microplate reader. Fujimoto, A., Okano, Y., Miyagi, T., Isshiki, G., Oura, T. Clin. Chem. (2000) [Pubmed]
  32. 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]
  33. Functional requirements of the active site position 185 in the human enzyme galactose-1-phosphate uridylyltransferase. Quimby, B.B., Wells, L., Wilkinson, K.D., Fridovich-Keil, J.L. J. Biol. Chem. (1996) [Pubmed]
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