rs72551340
This variant is located in the UGT1A1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Crigler-Najjar syndrome in The Netherlands: Identification of four novelUGT1A1alleles, genotypeâphenotype correlation, and functional analysis of 10 missense mutantsFunctionalN=19Nina Sneitz et al.(2010)· Human Mutation
A study of 19 Crigler-Najjar syndrome patients from the Netherlands and Belgium identified 14 different UGT1A1 mutations (4 novel: c.571C>T/p.S191F, c.1160C>A/p.P387H, c.1205A>C/p.K402T, c.1491delG/p.A498X), with two founder mutations present in multiple unrelated patients. The UGT1A1*28 promoter polymorphism (rs5719145insTA) was linked to three structural mutations. Functional analysis of 10 missense mutants showed varying residual enzymatic activity (0-94% of wild-type) toward bilirubin and other substrates, providing insights into enzyme structure and genotype-phenotype correlation for clinical diagnosis.
About UGT1A1
This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. 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 in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008]
View all UGT1A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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