2012年2月1日 · The UGT1A1 gene belongs to a family of genes that provide instructions for making enzymes called UDP-glucuronosyltransferases. Learn about this gene and related health conditions.

UGT-1A is a uridine diphosphate glucuronosyltransferase (UDP-glucuronosyltransferase, UDPGT), an enzyme of the glucuronidation pathway that transforms small lipophilic (fat-soluble) molecules, such as steroids, bilirubin, hormones, and …

2021年12月3日 · To assist oncologists in assessing whether and when to use UGT1A1 genetic testing in patients receiving irinotecan-based therapies, this article provided (1) essential knowledge of UGT1A1 polymorphisms; (2) an update on the impact of UGT1A1 polymorphisms on efficacy and toxicity of contemporary irinotecan-based regimens; (3) dosing adjustments ...

Gilbert’s syndrome is a condition involving a genetic polymorphism in a phase 2 glucuronidation gene known as UGT1a1. The result of this causes elevations in the levels of unconjugated bilirubin. The current scientific consensus is that Gilbert’s is a relatively benign condition, that only features elevations of bilirubin.

2024年12月25日 · UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1) is a Protein Coding gene. Diseases associated with UGT1A1 include Crigler-Najjar Syndrome, Type I and Crigler-Najjar Syndrome, Type Ii . Among its related pathways are Drug ADME and Metapathway biotransformation Phase I and II .

This is a full gene sequencing test for UGT1A1 that includes the TA repeat region of the promoter and all intron/exon boundaries. Results are interpreted for the purposes of UGT1A1 drug metabolism and hereditary hyperbilirubinemia syndromes (Gilbert syndrome and …

2025年2月8日 · Gene ID: 54658, updated on 8-Feb-2025. 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.

Genetic testing of UGT1A1 was used to facilitate the diagnosis of Gilbert syndrome, and analyze the distribution features of pathogenic variants in the Chinese population. DNA was extracted from whole blood samples of patients with unconjugated ...

UGT1A1 is the gene that encodes the UDP-glucuronosyltransferase 1 enzyme. That means that the UGT1A1 gene gives your cells the instructions to make the UGT1A1 enzyme. The UGT1A1 enzyme is needed to break down and clear irinotecan chemotherapy in your body.

Gilbert syndrome is a common condition that is estimated to affect 3 to 7 percent of Americans. UGT1A1 variant frequency is ethnicity dependent. The UGT1A1 gene is located on chromosome 2q37.1. Inheritance is autosomal recessive.