A naturally occurring point mutation in the human alpha 1-antitrypsin gene leads to the synthesis of a variant of the protein which is poorly secreted from hepatocytes. This Z; mutation codes for a glutamic acid to lysine substitution at residue 342 in the polypeptide chain. The mutant protein is correctly translocated into the lumen of the endoplasmic reticulum and core glycosylated but inefficiently transported beyond the ER compartment. Experiments using Xenopus oocytes as a surrogate secretory cell show that abberant secretion of the variant is not confined to hepatocytes and glycosylation of the polypeptide is not obligatory for the block in secretion. Site-directed mutagenesis can be used to examine the effect of natural mutations on protein structure and the relationship between structure and intraceltular transport.
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April 01 1987
Alpha 1-antitrypsin deficiency—A defect in secretion
R. C. Foreman
R. C. Foreman
1Department of Pharmaceutical Chemistry, The School of Pharmacy, 29/39 Brunswick Square, London WC1N 1AX, UK
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Publisher: Portland Press Ltd
Received:
April 09 1987
Online ISSN: 1573-4935
Print ISSN: 0144-8463
© 1987 Plenum Publishing Corporation
1987
Biosci Rep (1987) 7 (4): 307–311.
Article history
Received:
April 09 1987
Citation
R. C. Foreman; Alpha 1-antitrypsin deficiency—A defect in secretion. Biosci Rep 1 April 1987; 7 (4): 307–311. doi: https://doi.org/10.1007/BF01121452
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