UGT1A7
UGT1A7 Gene: A Genetic Player in Drug Metabolism and Disease
Introduction
The human genome contains a vast array of genes, each with its unique set of instructions for building and maintaining our bodies. Among these genes, UGT1A7 stands out as a crucial player in drug metabolism and is associated with several important diseases.
Description of UGT1A7 Gene
UGT1A7 is a member of the UDP-glucuronosyltransferase (UGT) gene family, which encodes enzymes that attach glucuronic acid molecules to various substances in the body. This process, known as glucuronidation, is essential for the detoxification and elimination of waste products, toxins, and drugs.
The UGT1A7 gene is located on chromosome 2 and is highly expressed in the liver, the primary organ responsible for drug metabolism. It plays a significant role in the metabolism of a wide range of compounds, including bilirubin, hormones, and certain drugs.
Associated Diseases
Defects or mutations in the UGT1A7 gene have been linked to several diseases, including:
- Crigler-Najjar Syndrome Type II: A rare genetic condition characterized by high levels of bilirubin in the blood, leading to jaundice and other complications.
- Gilbert‘s Syndrome: A common genetic variation that results in slightly elevated bilirubin levels, often with no symptoms.
- Irinotecan Toxicity: In some individuals with certain genetic variants of UGT1A7, treatment with the chemotherapy drug irinotecan can lead to severe side effects, including low blood cell counts and gastrointestinal toxicity.
Did you Know ?
According to studies, approximately 1 in every 200 people has a genetic variant of UGT1A7 that affects the metabolism of bilirubin. This variant is responsible for the majority of cases of Gilbert‘s Syndrome.
