UGT1A4
UGT1A4 Gene: A Comprehensive Guide
Description
The UGT1A4 gene, located on chromosome 2q37.3, encodes a member of the UDP-glucuronosyltransferase (UGT) family of proteins. UGTs play a crucial role in detoxifying various endogenous and exogenous compounds by catalyzing the transfer of glucuronic acid from UDP-glucuronic acid to these substrates.
UGT1A4 is the most abundant UGT in the liver and is responsible for the glucuronidation of a wide range of substances, including steroids, bilirubin, drugs, and toxins. Glucuronidation enhances the solubility and excretion of these compounds, facilitating their removal from the body.
Associated Diseases
Mutations in the UGT1A4 gene can lead to several inherited disorders, including:
- Gilbert‘s Syndrome: A common condition characterized by elevated bilirubin levels in the blood without liver damage.
- Crigler-Najjar Syndrome Type 1 and 2: Rare and severe disorders that result in extreme hyperbilirubinemia and can lead to liver failure or death if untreated.
Did you Know ?
Approximately 10% of the population has a common genetic polymorphism in the UGT1A4 gene that affects its activity. Individuals with this polymorphism are known as "slow metabolizers" and may exhibit reduced glucuronidation capacity. This can have implications for drug metabolism and toxicity.
