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Gene : UGT1A1 Homo sapiens

Name  ? UDP glucuronosyltransferase family 1 member A1 Cytological Location  2q37.1
Brief Description  UDP glucuronosyltransferase family 1 member A1
description  This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008]
  • synonyms:
  • UDPGT,
  • HGNC:12530,
  • BILIQTL1,
  • GNT1,
  • UGT1A,
  • UGT1A,
  • uc002vvb.4,
  • UDPGT 1-1,
  • GNT1,
  • UGT1,
  • UDP glycosyltransferase 1 family, polypeptide A1,
  • NM_000463,
  • UGT1,
  • M57899,
  • HUG-BR1,
  • UGT1A1,
  • OTTHUMG00000059117
  • identifiers:
  • 54658,
  • ENSG00000241635,
  • UGT1A1

Genome feature

Region: gene ? Length: 13027  
Location: 2:233760273-233773299 Cyto location: 2q37.1


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Disease

5 Diseases

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Expression

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Other

64 SN Ps

5 Cross References

17 Data Sets

132 Homologues

0 Located Features

90 Rna Seq Results