A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type IIs
作者： Jurgen Seppen , Edmee Steenken , Dick Lindhout , Piter J. Bosma , Ronald P.J. Oude Elferink
DOI: 10.1016/0014-5793(96)00677-1
关键词:
摘要: Crigler-Najjar (CN) disease is caused by a deficiency of the hepatic enzyme, bilirubin UDP-glucuronosyltransferase (B-UGT). We have found two CN type II patients, who were homozygous for leucine to arginine transition at position 15 B-UGT1. This mutation expected disrupt hydrophobic core signal peptide Wild and mutant B-UGT cDNAs transfected in COS cells. Mutant wild mRNA formed equal amounts. The protein was expressed with 0.5% efficiency, as compared type. mRNAs translated vitro. transferase processed microsomes, no processing observed.
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