UGT1A1 gene mutation

Clinical significance

• defects in UGT1A1 are associated with
  • Gilbert syndrome (autosomal dominant) transient familial neonatal hyperbilirubinemia (same mutations as Gilbert's syndrome)
  • Crigler-Najjar syndrome type 1 (autosomal recessive)
  • Crigler-Najjar syndrome type 2 (autosomal dominant)

More general terms

• UGT1A1 genotyping
• gene mutation testing; gene mutation analysis

Additional terms

• UDP-glucuronosyltransferase-1A (UDPGT-1A, bilirubin-specific isozyme 1, HUG-BR1, UGT1A1, GNT1, UGT1)