Alpha 1-antitrypsin deficiency--a defect in secretion.
Biosci Rep
; 7(4): 307-11, 1987 Apr.
Article
en En
| MEDLINE
| ID: mdl-3499938
ABSTRACT
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 intracellular transport.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Deficiencia de alfa 1-Antitripsina
Límite:
Animals
Idioma:
En
Revista:
Biosci Rep
Año:
1987
Tipo del documento:
Article
País de afiliación:
Reino Unido