UGT1A1 Antibody

Background:

This gene encodes a UDP-glucuronosyltransferase, an enzymeof the glucuronidation pathway that transforms small lipophilicmolecules, such as steroids, bilirubin, hormones, and drugs, intowater-soluble, excretable metabolites. This gene is part of acomplex locus that encodes several UDP-glucuronosyltransferases.The locus includes thirteen unique alternate first exons followedby four common exons. Four of the alternate first exons areconsidered pseudogenes. Each of the remaining nine 5' exons may bespliced to the four common exons, resulting in nine proteins withdifferent N-termini and identical C-termini. Each first exonencodes the substrate binding site, and is regulated by its ownpromoter. 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 inCrigler-Najjar syndromes types I and II and in Gilbert syndrome.