Galactose-1-phosphate uridylyltransferase
The GALT gene encodes an enzyme involved in galactose metabolism which when mutated causes autosomal recessive galactosemia.
Genetests:
Related Diseases:
References:
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Greber-Platzer S et al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
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2. |
Ashino J et al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese.
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3. |
Lin HC et al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.
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4. |
Elsas LJ et al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
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5. |
Elsas LJ et al. (1994) A common mutation associated with the Duarte galactosemia allele.
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6. |
Reichardt JK et al. (1993) Molecular characterization of the H319Q galactosemia mutation.
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7. |
Lai K et al. (1996) A prevalent mutation for galactosemia among black Americans.
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8. |
Ninfali P et al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.
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9. |
Podskarbi T et al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.
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10. |
Elsevier JP et al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.
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11. |
Langley SD et al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia.
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12. |
Mohandas T et al. (1978) Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9.
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13. |
Magrangeas F et al. (1998) Cotranscription and intergenic splicing of human galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain genes generate a fusion mRNA in normal cells. Implication for the production of multidomain proteins during evolution.
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14. |
Tyfield L et al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
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15. |
Kozák L et al. (1999) Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.
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16. |
Murphy M et al. (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.
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17. |
Elsas LJ et al. () The molecular biology of galactosemia.
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18. |
Elsas LJ et al. (2001) Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.
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19. |
Trbusek M et al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.
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20. |
Suzuki M et al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.
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21. |
Carney AE et al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
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22. |
Tang M et al. (2014) Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.
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23. |
Kelley RI et al. (1983) Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.
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24. |
None (1979) Abstracts of meeting presentations.
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25. |
Westerveld A et al. (1978) Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridylyltransferase on chromosome 9.
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26. |
Mohandas T et al. (1977) Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.
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27. |
Mohandas T et al. (1979) Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.
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28. |
Meera Khan P et al. (1978) Assignment of a human galactose-1-phosphate uridylyltransferase gene (GALT1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.
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29. |
Sun NC et al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.
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30. |
Scherz R et al. (1976) A new genetic variant of galactose-1-phosphate uridyl transferase.
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31. |
Reichardt JK et al. (1992) Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.
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32. |
Reichardt JK et al. (1991) Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
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33. |
Reichardt JK et al. (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
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34. |
Flach JE et al. (1990) Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.
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35. |
Reichardt JK et al. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.
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36. |
Tedesco TA et al. (1974) Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.
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37. |
Sun NC et al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.
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38. |
Bergren WG et al. (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.
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39. |
Vaccaro AM et al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.
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40. |
Shih LY et al. (1984) Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.
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41. |
Sparkes RS et al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.
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42. |
Mulcahy MT et al. (1980) Where is the gene for GALT?
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43. |
Sparkes RS et al. (1980) Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.
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44. |
Xu YK et al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.
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45. |
Orphanet article
Orphanet ID 122009
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46. |
NCBI article
NCBI 2592
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47. |
OMIM.ORG article
Omim 606999
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48. |
Wikipedia article
Wikipedia EN (Galactose-1-phosphate_uridylyltransferase)
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Update: Aug. 14, 2020