UDF-glucuronosyltransferase gene 1A1 (* 28) (Gilbert's syndrome)

General Information

UGT1A1  The gene belongs to a family of genes that encode the enzyme UDP-glucuronyltransferase. This group of enzymes participates in the glucuronidation reaction, when a glucuronic acid residue is attached to a particular substrate.

UGT1A1The enzyme synthesized by the gene ensures the glucuronidation of bilirubin, i.e. the conversion of indirect bilirubin into direct bilirubin. This process takes place in liver cells. Direct bilirubin is included in the composition of bile juice.

UGT1A1  Mutations in the gene cause Gilbert's syndrome. This condition is characterized by intermittent, moderate, indirect hyperbilirubinemia, which can rarely cause jaundice.

Material for examination:Venous blood

Preparation of the patient:it is not necessary