Summary
The human liver bilirubin UDP-glucuronosyl transferase (bilirubin UDPGT) [EC 2.4.1.17] is responsible for the enzyme deficiency in Crigler-Najjar syndrome and/or Gilbert's syndrome. The UDPGT, former shows severe jaundice resulted from a complete absence of bilirubin while the latter has a mild manifestation due to a reduction of the enzyme activity. The gene locus of bilirubin UDPGT was mapped to chromosome 1 by spot-blot hybridization using a cell-sorter, and its regional locus was assigned to 1q21-q23 by high resolutionin situ hybridization.
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Hagiwara, H., Takeda, K., Ikeda, H. et al. Gene mapping of human bilirubin UDP-glucuronosyl transferase on 1q21-q23 by a cell sorter andin situ hybridization. Jap J Human Genet 36, 189–194 (1991). https://doi.org/10.1007/BF01876583
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DOI: https://doi.org/10.1007/BF01876583