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Index > Protein center > UGT1A1(Gene name) > Human
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  • UGT1A1 (Gene name),
  • UDP-glucuronosyltransferase 1-1 (Protein name ),  UD11_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    UGT1A1(GNT1;UGT1);
    Protein name:
    UDP-glucuronosyltransferase 1-1(UDPGT 1-1;UGT1*1;UGT1-01;UGT1.1);
    Alternative:
    UDP-glucuronosyltransferase 1-A(UGT-1A;UGT1A);Bilirubin-specific UDPGT isozyme 1(hUG-BR1);UDP-glucuronosyltransferase 1A1;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Part a large chaperone multiprotein complex comprising DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PDIA6, PPIB, SDF2L1, UGT1A1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX.
    Function:
    UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone.
    Subcellular Location:
    Microsome Endoplasmic reticulum membrane Single-pass membrane protein
    Protein Attributes:
    Sequence length:
    533
    Sequence:
    50:
    MAVESQGGRP | LVLGLLLCVL | GPVVSHAGKI | LLIPVDGSHW | LSMLGAIQQL | 
    100:
    QQRGHEIVVL | APDASLYIRD | GAFYTLKTYP | VPFQREDVKE | SFVSLGHNVF | 
    150:
    ENDSFLQRVI | KTYKKIKKDS | AMLLSGCSHL | LHNKELMASL | AESSFDVMLT | 
    200:
    DPFLPCSPIV | AQYLSLPTVF | FLHALPCSLE | FEATQCPNPF | SYVPRPLSSH | 
    250:
    SDHMTFLQRV | KNMLIAFSQN | FLCDVVYSPY | ATLASEFLQR | EVTVQDLLSS | 
    300:
    ASVWLFRSDF | VKDYPRPIMP | NMVFVGGINC | LHQNPLSQEF | EAYINASGEH | 
    350:
    GIVVFSLGSM | VSEIPEKKAM | AIADALGKIP | QTVLWRYTGT | RPSNLANNTI | 
    400:
    LVKWLPQNDL | LGHPMTRAFI | THAGSHGVYE | SICNGVPMVM | MPLFGDQMDN | 
    450:
    AKRMETKGAG | VTLNVLEMTS | EDLENALKAV | INDKSYKENI | MRLSSLHKDR | 
    500:
    PVEPLDLAVF | WVEFVMRHKG | APHLRPAAHD | LTWYQYHSLD | VIGFLLAVVL | 
    533:
    TVAFITFKCC | AYGYRKCLGK | KGRVKKAHKS | KTH
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
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    Related Databases
    UniGene:
    MIM:
    SMR:
    KEGG:
    String:
    Pfam:
    Uniprot:
     
    FOR
    ELISA Kit for Human UDPGT 1-1
    Cat.:
    E12952h
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    96T
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    ELISA Kit for Human UDPGT 1-1
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    E12952m
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    ELISA Kit for Human UDPGT 1-1
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    E12952r
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    Packing:
    96T
    CLIA Kit for Human UDPGT 1-1
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    U12952r
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human UDPGT 1-1
    Cat.:
    U12952h
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    MSDS:
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    Packing:
    96T
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    CLIA Kit for Human UDPGT 1-1
    Cat.:
    U12952m
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Polyclonal Antibody for Human UDPGT 1-1
    Polyclonal Antibody for Human UDPGT 1-1
    Polyclonal Antibody for Human UDPGT 1-1
    Cat.:
    P12952Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human UDPGT 1-1
    Monoclonal Antibody for Human UDPGT 1-1
    Monoclonal Antibody for Human UDPGT 1-1
    Protein for Human UDPGT 1-1
    Protein for Human UDPGT 1-1
    Protein for Human UDPGT 1-1

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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells."
      Ritter J.K. , Crawford J.M. , Owens I.S.
      J. Biol. Chem.266:1043-1047(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
      tissue: Liver.
    2. 2.
      "A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini."
      Ritter J.K. , Chen F. , Sheen Y.Y. , Tran H.M. , Kimura S. , Yeatman M.T. , Owens I.S.
      J. Biol. Chem.267:3257-3261(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];TISSUE SPECIFICITY
    3. 3.
      "Thirteen UDP-glucuronosyltransferase genes are encoded at the human UGT1 gene complex locus."
      Gong Q.H. , Cho J.W. , Huang T. , Potter C. , Gholami N. , Basu N.K. , Kubota S. , Carvalho S. , Pennington M.W. , Owens I.S. , Popescu N.C.
      Pharmacogenetics11:357-368(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    4. 4.
      Guillemette C. , Levesque E. , Girard H. , Bernard O.
      Submitted (2006-01) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2)
    5. 5.
      "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W. , Graves T.A. , Fulton R.S. , Fulton L.A. , Pepin K.H. , Minx P. , Wagner-McPherson C. , Layman D. , Wylie K. , Sekhon M. , Becker M.C. , Fewell G.A. , Delehaunty K.D. , Miner T.L. , Nash W.E. , Kremitzki C. , Oddy L. , Du H. , more...
      Nature434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    6. 6.
      "Analysis of the promoter of human bilirubin UDP-glucuronosyltransferase gene (UGT1*1) in relevance to Gilbert's syndrome."
      Ueyama H. , Koiwai O. , Soeda Y. , Sato H. , Satoh Y. , Ohkubo I. , Doida Y.
      Hepatol. Res.9:152-163(1997)
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-50
    7. 7.
      "A subset of chaperones and folding enzymes form multiprotein complexes in endoplasmic reticulum to bind nascent proteins."
      Meunier L. , Usherwood Y.-K. , Chung K.T. , Hendershot L.M.
      Mol. Biol. Cell13:4456-4469(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: COMPONENT OF A CHAPERONE COMPLEX
    8. 8.
      "Regulation of the UGT1A1 bilirubin-conjugating pathway: role of a new splicing event at the UGT1A locus."
      Levesque E. , Girard H. , Journault K. , Lepine J. , Guillemette C.
      Hepatology45:128-138(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ALTERNATIVE SPLICING;FUNCTION (ISOFORM 2);SUBCELLULAR LOCATION;SUBUNIT;TISSUE SPECIFICITY
    9. 9.
      "Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates."
      Udomuksorn W. , Elliot D.J. , Lewis B.C. , Mackenzie P.I. , Yoovathaworn K. , Miners J.O.
      Pharmacogenet. Genomics17:1017-1029(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;CATALYTIC ACTIVITY;KINETIC PARAMETERS;SUBSTRATE SPECIFICITY;CHARACTERIZATION OF VARIANTS CN2 ARG-71; LEU-83; GLN-229 AND ASP-486
    10. 10.
      "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."
      Girard H. , Levesque E. , Bellemare J. , Journault K. , Caillier B. , Guillemette C.
      Pharmacogenet. Genomics17:1077-1089(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ALTERNATIVE SPLICING;CATALYTIC ACTIVITY;FUNCTION (ISOFORM 2);TISSUE SPECIFICITY
    11. 11.
      "Structure and concentration changes affect characterization of UGT isoform-specific metabolism of isoflavones."
      Tang L. , Singh R. , Liu Z. , Hu M.
      Mol. Pharm.6:1466-1482(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION
    12. 12.
      "Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants."
      Sneitz N. , Bakker C.T. , de Knegt R.J. , Halley D.J. , Finel M. , Bosma P.J.
      Hum. Mutat.31:52-59(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;SUBSTRATE SPECIFICITY;VARIANT CN1 THR-402;VARIANTS CN2 ARG-15; ARG-71; PHE-191; TRP-209; TRP-336; HIS-387; PRO-443 AND ASP-486;CHARACTERIZATION OF VARIANT CN1 THR-402;CHARACTERIZATION OF VARIANTS CN2 ARG-71; GLN-175; PHE-191; TRP-209; ARG-331; TRP-336; HIS-387; VAL-395 AND PRO-443
    13. 13.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN BILIQTL1
    14. 14.
      "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
      J. Proteome Res.8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-102
      tissue: Liver.
    15. 15.
      "Alternatively spliced products of the UGT1A gene interact with the enzymatically active proteins to inhibit glucuronosyltransferase activity in vitro."
      Bellemare J. , Rouleau M. , Girard H. , Harvey M. , Guillemette C.
      Drug Metab. Dispos.38:1785-1789(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBUNIT
    16. 16.
      "Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I."
      Bosma P.J. , Chowdhury J.R. , Huang T.-J. , Lahiri P. , Elferink R.P.J.O. , van Es H.H.G. , Lederstein M. , Whitington P.F. , Jansen P.L.M. , Chowdhury N.R.
      FASEB J.6:2859-2863(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CN1 PHE-375
    17. 17.
      "Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II."
      Aono S. , Yamada Y. , Keino H. , Hanada N. , Nakagawa T. , Sasaoka Y. , Yazawa T. , Sato H. , Koiwai O.
      Biochem. Biophys. Res. Commun.197:1239-1244(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CN2 ARG-71 AND ASP-486
    18. 18.
      "Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2."
      Moghrabi N. , Clarke D.J. , Boxer M. , Burchell B.
      Genomics18:171-173(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CN2 ARG-331
    19. 19.
      "A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase."
      Ritter J.K. , Yeatman M.T. , Kaiser C. , Gridelli B. , Owens I.S.
      J. Biol. Chem.268:23573-23579(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CN1 PHE-170 DEL
    20. 20.
      "Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases."
      Labrune P. , Myara A. , Hadchouel M. , Ronchi F. , Bernard O. , Trivin F. , Roy Chowdhury N. , Roy Chowdhury J. , Munnich A. , Odievre M.
      Hum. Genet.94:693-697(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CN1 VAL-292; GLU-308; ARG-357; THR-368; ARG-381; PRO-401 AND GLU-428
    21. 21.
      "Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro."
      Erps L.T. , Ritter J.K. , Hersh J.H. , Blossom D. , Martin N.C. , Owens I.S.
      J. Clin. Invest.93:564-570(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CN1 GLU-308 AND PHE-375;CHARACTERIZATION OF VARIANTS CN1 GLU-308 AND PHE-375
    22. 22.
      "Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase."
      Seppen J. , Bosma P.J. , Goldhoorn B.G. , Bakker C.T.M. , Roy Chowdhury J. , Roy Chowdhury N. , Jansen P.L.M. , Oude Elferink R.P.J.
      J. Clin. Invest.94:2385-2391(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CN1 PHE-170 DEL; ARG-177; ARG-276 AND PHE-375;VARIANTS CN2 GLN-175 AND TRP-209
    23. 23.
      "Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome."
      Aono S. , Adachi Y. , Uyama E. , Yamada Y. , Keino H. , Nanno T. , Koiwai O. , Sato H.
      Lancet345:958-959(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GILBS ARG-71; GLN-229 AND GLY-367
      tissue: Liver.
      tissue: Peripheral blood leukocyte.
    24. 24.
      "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."
      Seppen J. , Steenken E. , Lindhout D. , Bosma P.J. , Oude Elferink R.P.J.
      FEBS Lett.390:294-298(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CN2 ARG-15;CHARACTERIZATION OF VARIANT CN2 ARG-15
    25. 25.
      "Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease."
      Ciotti M. , Chen F. , Rubaltelli F.F. , Owens I.S.
      Biochim. Biophys. Acta1407:40-50(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CN2 THR-294;CHARACTERIZATION OF VARIANT CN2 THR-294
    26. 26.
      "Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II."
      Yamamoto K. , Soeda Y. , Kamisako T. , Hosaka H. , Fukano M. , Sato H. , Fujiyama Y. , Dachi Y. , Satoh Y. , Bamba T.
      J. Hum. Genet.43:111-114(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CN2 ARG-71; TRP-209; GLN-229 AND ASP-486
    27. 27.
      "Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene."
      Maruo Y. , Sato H. , Yamano T. , Doida Y. , Shimada M.
      J. Pediatr.132:1045-1047(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GILBS ASP-486
    28. 28.
      "Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype."
      Kadakol A. , Ghosh S.S. , Sappal B.S. , Sharma G. , Chowdhury J.R. , Chowdhury N.R.
      Hum. Mutat.16:297-306(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CN1 ASP-39; PHE-170 DEL; ARG-177; ARG-276; VAL-291; GLU-308; TRP-336; ARG-357; THR-368; PHE-375; ARG-381; SER-387; PRO-401 AND GLU-428;VARIANTS CN2 ARG-15; GLN-175; TRP-209; GLY-225 AND ARG-331;VARIANTS GILBS ARG-71; GLN-229; THR-294; GLY-367 AND ASP-486
    29. 29.
      "Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate-glucuronosyltransferase gene."
      Maruo Y. , Nishizawa K. , Sato H. , Sawa H. , Shimada M.
      Pediatrics106:E59-E59(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HBLRTFN ARG-71 AND ASP-486
    30. 30.
      "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."
      Kadakol A. , Sappal B.S. , Ghosh S.S. , Lowenheim M. , Chowdhury A. , Chowdhury S. , Santra A. , Arias I.M. , Chowdhury J.R. , Chowdhury N.R.
      J. Med. Genet.38:244-249(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CN2 GLN-175
    31. 31.
      "Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome."
      Labrune P. , Myara A. , Chalas J. , Le Bihan B. , Capel L. , Francoual J.
      Hum. Mutat.20:399-401(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CN2 ASP-400
    32. 32.
      "Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome."
      Sutomo R. , Laosombat V. , Sadewa A.H. , Yokoyama N. , Nakamura H. , Matsuo M. , Nishio H.
      Pediatr. Int.44:427-432(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GILBS LEU-83
    33. 33.
      "Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with Crigler-Najjar type II."
      Ohnishi A. , Emi Y.
      Biochem. Biophys. Res. Commun.310:735-741(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANT CN2 ARG-15
    34. 34.
      "Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation."
      Servedio V. , d'Apolito M. , Maiorano N. , Minuti B. , Torricelli F. , Ronchi F. , Zancan L. , Perrotta S. , Vajro P. , Boschetto L. , Iolascon A.
      Hum. Mutat.25:325-325(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CN1 GLN-336; ARG-357; PHE-375; SER-387 AND VAL-395;VARIANTS CN2 GLN-34; PHE-170 DEL; TRP-209; GLY-225; LEU-336; TRP-336; ARG-354; CYS-403 AND ASP-478;VARIANTS CN1/CN2 VAL-377 AND ARG-461
    35. 35.
      "Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia."
      D'Apolito M. , Marrone A. , Servedio V. , Vajro P. , De Falco L. , Iolascon A.
      Haematologica92:133-134(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CN1 PHE-171 DEL;VARIANTS CN2 TYR-279; ARG-354; VAL-370; VAL-395; PRO-443 AND ARG-461
    36. 36.
      "UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias."
      Khan S. , Irfan M. , Sher G. , Zubaida B. , Alvi M.A. , Yasinzai M. , Naeem M.
      Ann. Hum. Genet.77:482-487(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CN1 ASN-36;VARIANT CN2 CYS-230
    37. 37.
      "Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia."
      Minucci A. , Canu G. , Gentile L. , Cimino V. , Giardina B. , Zuppi C. , Capoluongo E.
      Clin. Biochem.46:170-172(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CN2 PHE-170 DEL AND CYS-367
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