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. Defects in UGT1A4 are the cause of Gilbert syndrome (GILBS). Gilbert syndrome occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague nonspecific complaints. Defects in UGT1A4 are the cause of Crigler-Najjar syndrome type 1 (CN1). CN1 patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive. Defects in UGT1A4 are the cause of Crigler-Najjar syndrome type 2 (CN2). CN2 patients have less severe hyperbilirubinemia and usually survive into adulthood without neurologic damage. Phenobarbital, which induces the partially deficient glucuronyl transferase, can diminish the jaundice. CN2 inheritance is autosomal dominant. Belongs to the UDP-glycosyltransferase family. 1 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Carbohydrate Metabolism - ascorbate and aldarate; Carbohydrate Metabolism - pentose and glucuronate interconversions; Carbohydrate Metabolism - starch and sucrose; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Cofactor and Vitamin Metabolism - retinol; EC 18.104.22.168; Endoplasmic reticulum; Lipid Metabolism - androgen and estrogen; Membrane protein, integral; Transferase; Xenobiotic Metabolism - drug metabolism - cytochrome P450; Xenobiotic Metabolism - drug metabolism - other enzymes; Xenobiotic Metabolism - metabolism by cytochrome P450