UDP-glucuronosyltransferases
The UGT1A gene encodes the enzyme UDP-glucuronosyltransferases which is involved in bilirubin metabolism. Mutations cause various forms of hyperbilirubinemia in which unconjugated bilirubin is elevated in serum. Inheritance may be dominant or recessive.
Genetests:
Related Diseases:
References:
1. |
Girard H et al. (2007) Genetic diversity at the UGT1 locus is amplified by a novel 3' alternative splicing mechanism leading to nine additional UGT1A proteins that act as regulators of glucuronidation activity.
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2. |
Harding D et al. (1988) Cloning and substrate specificity of a human phenol UDP-glucuronosyltransferase expressed in COS-7 cells.
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3. |
Nagai F et al. (1988) Studies on the genetic linkage of bilirubin and androsterone UDP-glucuronyltransferases by cross-breeding of two mutant rat strains.
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4. |
Jackson MR et al. (1987) Cloning of a human liver microsomal UDP-glucuronosyltransferase cDNA.
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5. |
Zahreddine HA et al. (2014) The sonic hedgehog factor GLI1 imparts drug resistance through inducible glucuronidation.
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6. |
Lee JS et al. (2011) Genetic variation in UGT1A1 typical of Gilbert syndrome is associated with unconjugated hyperbilirubinemia in patients receiving tocilizumab.
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7. |
Harding D et al. (1990) Chromosomal mapping of a human phenol UDP-glucuronosyltransferase, GNT1.
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8. |
Wooster R et al. (1991) Cloning and stable expression of a new member of the human liver phenol/bilirubin: UDP-glucuronosyltransferase cDNA family.
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9. |
Burchell B et al. (1991) The UDP glucuronosyltransferase gene superfamily: suggested nomenclature based on evolutionary divergence.
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10. |
Ritter JK et al. (1991) Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells.
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11. |
Nguyen N et al. (2008) Disruption of the ugt1 locus in mice resembles human Crigler-Najjar type I disease.
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12. |
Peters WH et al. (1984) The molecular weights of UDP-glucuronyltransferase determined with radiation-inactivation analysis. A molecular model of bilirubin UDP-glucuronyltransferase.
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13. |
Udomuksorn W et al. (2007) Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates.
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14. |
None (1990) The cDNA sequence and expression of a variant 17 beta-hydroxysteroid UDP-glucuronosyltransferase.
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15. |
Miles JS et al. (1991) Mapping genes encoding drug-metabolizing enzymes in recombinant inbred mice.
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16. |
Bosma PJ et al. (1992) Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.
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17. |
Mackenzie PI et al. (2005) Nomenclature update for the mammalian UDP glycosyltransferase (UGT) gene superfamily.
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18. |
Edison ES et al. (2005) Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism.
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19. |
French D et al. (2005) Global gene expression as a function of germline genetic variation.
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20. |
Petit FM et al. (2005) Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
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21. |
Kaniwa N et al. (2005) Racial variability in haplotype frequencies of UGT1A1 and glucuronidation activity of a novel single nucleotide polymorphism 686C> T (P229L) found in an African-American.
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22. |
Maruo Y et al. (2004) Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome.
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23. |
Strassburg CP et al. (1997) Differential expression of the UGT1A locus in human liver, biliary, and gastric tissue: identification of UGT1A7 and UGT1A10 transcripts in extrahepatic tissue.
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24. |
Akaba K et al. (1999) Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese.
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25. |
Akaba K et al. (1998) Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese.
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26. |
Beutler E et al. (1998) Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?
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27. |
Gantla S et al. (1998) Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1.
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28. |
Iyer L et al. (1998) Genetic predisposition to the metabolism of irinotecan (CPT-11). Role of uridine diphosphate glucuronosyltransferase isoform 1A1 in the glucuronidation of its active metabolite (SN-38) in human liver microsomes.
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29. |
Iolascon A et al. (1998) UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis.
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30. |
Sampietro M et al. (1997) The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency.
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31. |
Galanello R et al. (1997) Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome.
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32. |
Kaplan M et al. (1997) Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia.
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33. |
Mackenzie PI et al. (1997) The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence.
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34. |
Ritter JK et al. (1992) Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.
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35. |
Rosatelli MC et al. (1997) Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I.
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36. |
Mojarrabi B et al. (1996) cDNA cloning and characterization of the human UDP glucuronosyltransferase, UGT1A3.
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37. |
Seppen J et al. (1996) A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.
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38. |
Bosma PJ et al. (1993) A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II.
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39. |
van Es HH et al. (1993) Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37.
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40. |
Ritter JK et al. (1993) A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.
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41. |
Moghrabi N et al. (1993) Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis.
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42. |
Aono S et al. (1994) A new type of defect in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I.
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43. |
Erps LT et al. (1994) Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.
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44. |
Borlak J et al. (2000) Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects.
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45. |
Sato H et al. (2013) Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding.
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46. |
Maruo Y et al. (2000) Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene.
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47. |
Johnson AD et al. (2009) Genome-wide association meta-analysis for total serum bilirubin levels.
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48. |
Lin R et al. (2009) Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations.
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49. |
Lin JP et al. (2003) Evidence for a gene influencing serum bilirubin on chromosome 2q telomere: a genomewide scan in the Framingham study.
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50. |
Koiwai O et al. (1995) Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase.
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51. |
Bosma PJ et al. (1995) The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.
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52. |
None (2008) Pharmacogenetics of Gilbert's syndrome.
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53. |
Hsieh TY et al. (2007) Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter.
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54. |
Sugatani J et al. (2002) Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia.
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55. |
Moghrabi N et al. (1992) Chromosomal assignment of human phenol and bilirubin UDP-glucuronosyltransferase genes (UGT1A-subfamily).
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56. |
Maruo Y et al. (1999) A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene.
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57. |
Suhre K et al. (2011) Human metabolic individuality in biomedical and pharmaceutical research.
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58. |
Yamamoto K et al. (1998) Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.
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59. |
Seppen J et al. (1994) Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.
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60. |
Petit F et al. (2006) Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.
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61. |
Kadakol A et al. (2001) Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.
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62. |
Moghrabi N et al. (1993) Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.
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63. |
Gollan JL et al. (1975) Prolonged survival in three brothers with severe type 2 Crigler-Najjar syndrome. Ultrastructural and metabolic studies.
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64. |
Jansen PL et al. (1992) New developments in glucuronidation research: report of a workshop on "glucuronidation, its role in health and disease".
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65. |
Kren BT et al. (1999) Correction of the UDP-glucuronosyltransferase gene defect in the gunn rat model of crigler-najjar syndrome type I with a chimeric oligonucleotide.
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66. |
None (2004) Pharmacogenetics and drug development: the path to safer and more effective drugs.
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67. |
Innocenti F et al. (2004) Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan.
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68. |
Maruo Y et al. (2003) Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome.
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69. |
Basu NK et al. (2004) Differential and special properties of the major human UGT1-encoded gastrointestinal UDP-glucuronosyltransferases enhance potential to control chemical uptake.
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70. |
Ohnishi A et al. (2003) Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with Crigler-Najjar type II.
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71. |
Sato H et al. (1992) Mapping of the mouse bilirubin UDP-glucuronosyltransferase gene (Gnt-1) to chromosome 1 by restriction fragment length variations.
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72. |
Ritter JK et al. (1992) A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini.
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73. |
Fertrin KY et al. (2003) UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia.
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74. |
Premawardhena A et al. () The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications.
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75. |
Labrune P et al. (2002) Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome.
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76. |
Francoual J et al. (2002) Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene.
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77. |
King CD et al. (2000) UDP-glucuronosyltransferases.
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78. |
Gong QH et al. (2001) Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus.
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79. |
Premawardhena A et al. (2001) Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia.
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80. |
Kadakol A et al. (2000) Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
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81. |
Kaplan M et al. (2000) Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates.
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82. |
Findlay KA et al. (2000) Characterization of the uridine diphosphate-glucuronosyltransferase-catalyzing thyroid hormone glucuronidation in man.
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83. |
Tukey RH et al. (2000) Human UDP-glucuronosyltransferases: metabolism, expression, and disease.
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84. |
Kimura T et al. (1999) Intermittent jaundice in patients with acute leukaemia: a common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians.
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85. |
Monaghan G et al. (1999) Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn.
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86. |
NCBI article
NCBI 7361
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87. |
OMIM.ORG article
Omim 191740
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88. |
Orphanet article
Orphanet ID 120380
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Update: Aug. 14, 2020