1996-07-29
A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II
Publication
Publication
F E B S Letters , Volume 390 - Issue 3 p. 294- 298
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 a leucine to arginine transition at position 15 of B-UGT1. This mutation is expected to disrupt the hydrophobic core of the signal peptide of B-UGT1. Wild type and mutant B-UGT cDNAs were transfected in COS cells. Mutant and wild type mRNA were formed in equal amounts. The mutant protein was expressed with 0.5% efficiency, as compared to wild type. Mutant and wild type mRNAs were translated in vitro. Wild type transferase is processed by microsomes, no processing of the mutant protein was observed.
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doi.org/10.1016/0014-5793(96)00677-1, hdl.handle.net/1765/62037 | |
F E B S Letters | |
Organisation | Department of Clinical Genetics |
Seppen, J., Steenken, E., Lindhout, D., Bosma, P., & Oude Elferink, R. (1996). A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II. F E B S Letters, 390(3), 294–298. doi:10.1016/0014-5793(96)00677-1 |