UGT2A1

UGT2A1 is an enzyme that in humans is encoded by the UGT2A1 gene. It is a member of the UDP-glucuronosyltransferase (UGT) family, which plays a significant role in the metabolism of endogenous and exogenous compounds.

Function

The UGT2A1 enzyme is involved in the process of glucuronidation, a major part of phase II metabolism. Glucuronidation is a pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This process involves the addition of a glucuronic acid moiety to the substance to increase its solubility and thus facilitate its removal from the body.

Gene

The UGT2A1 gene is located on chromosome 4q13. The gene spans approximately 30 kb and contains six exons. The gene is part of the UGT2 gene family, which also includes UGT2A2, UGT2A3, and UGT2B genes.

Clinical significance

Alterations in the UGT2A1 gene can lead to changes in the function of the UGT2A1 enzyme, which can affect the body's ability to metabolize certain substances. This can lead to a variety of health conditions, including Gilbert's syndrome, a benign condition characterized by intermittent mild jaundice due to the reduced glucuronidation of bilirubin.

See also

• UDP-glucuronosyltransferase
• Glucuronidation
• Gilbert's syndrome