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UGT1A1 Gene
Definition and Synonyms

Definition: Expressed in liver, 100-kb human UGT1A1 Gene (UDPGT Family) contains at least 12 promoters/first exons separately spliced to common downstream exons 2-5 to yield 533-aa 60-kDa (precursor) microsomal UDP-Glucuronosyltransferase 1A1 variants with unique N-termini (and substrate specificity) preceding a common conserved 245-aa C-terminus and involved in detoxification. Catalyzing glycosyl addition from a nucleotide sugar to a hydrophobic molecule, UDPGTs represent a major glucuronidation pathway in conjugation and elimination of toxic lipophilic xeno- and endobiotics to water-soluble compounds. UGT1A1 glucuronidates its preferred substrate bilirubin and acts on simple phenols, flavones, and C18 steroids. UGT1A1 may be a major gene controlling serum bilirubin levels. (NCI)

Synonyms: UGT1A1 Gene, GNT1, UDP glycosyltransferase 1 family, polypeptide A1 Gene, UDP glycosyltransferase gene 1, UGT1, UGT1A, UGT1A1, UGT1A5

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