UGT1A1 : UDP glucuronosyltransferase family 1 member A1
Description
The UGT1A1 (UDP glucuronosyltransferase family 1 member A1) is a protein-coding gene located on chromosome 2.
The UGT1A1 gene provides instructions for making an enzyme called UDP-glucuronosyltransferase. This enzyme attaches a compound called glucuronic acid to various substances, a process called glucuronidation. The protein produced from the UGT1A1 gene, specifically the bilirubin uridine diphosphate glucuronosyl transferase (bilirubin-UGT) enzyme, is solely responsible for glucuronidating bilirubin, a substance produced from the breakdown of red blood cells. This enzyme converts the toxic form of bilirubin (unconjugated bilirubin) into its nontoxic form (conjugated bilirubin), making it dissolvable and allowing its removal from the body. The bilirubin-UGT enzyme is primarily found in liver cells where bilirubin glucuronidation takes place. Conjugated bilirubin is dissolved in bile, a fluid produced by the liver, and excreted with solid waste.
The UGT1A1 gene encodes an enzyme that plays a crucial role in detoxification by attaching glucuronic acid to various substances, making them more soluble and easier to excrete. This enzyme is essential for eliminating drugs, toxins, and endogenous compounds. It also plays a significant role in the metabolism of estrogen hormones and bilirubin, a breakdown product of heme. Additionally, it helps process phytoestrogens with potential health benefits and certain drugs like losartan and irinotecan.
UGT1A1 is also known as BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT 1-1, UGT1, UGT1A.
Associated Diseases
- Crigler-Najjar syndrome, type II
- Hyperbilirubinemia, familial transient neonatal
- Crigler-Najjar syndrome, type I
- Crigler-Najjar syndrome type 1
- Crigler-Najjar syndrome type 2
- Gilbert syndrome
- Crigler-Najjar syndrome
- Warfarin resistance
