Defective UGT1A4 causes hyperbilirubinemia

Stable Identifier
R-HSA-5579016
Type
Pathway
Species
Homo sapiens
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UDP-glucuronosyltransferases (UGTs) play a major role in the conjugation and therefore elimination of potentially toxic xenobiotics and endogenous compounds. The 1-4 isoform UGT1A4 is able to act upon lipophilic bilirubin, the end product of heme breakdown. Defects in UGT1A4 can cause hyperbilirubinemia syndromes ranging from mild forms such as Gilbert syndrome (GILBS; MIM:143500) to the more severe Crigler-Najjar syndromes 1 and 2 (CN1, CN2; MIM:218800 and MIM:606785) (Sticova & Jirsa 2013, Strassburg 2010, Udomuksorn et al. 2007, Costa 2006, Maruo et al. 2000).

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Disease
Name Identifier Synonyms
Crigler-Najjar syndrome 3803 Bilirubin UDP glucuronyl transferase deficiency, Crigler Najjar syndrome, Crigler-Najjar syndrome (disorder), Crigler-Najjar syndrome, Crigler-Najjar syndrome, type I (disorder)
Gilbert syndrome 2739 hereditary nonhemolytic jaundice, Gilbert's disease, Constitutional hyperbilirubinemia, Gilbert-Meulengracht syndrome, Gilbert's syndrome
bilirubin metabolic disorder 2741 hyperbilirubinemia, hereditary hyperbilirubinemia
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