Open AccessMissense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation
Author(s) -
Orsolya Király,
Thomas Wartmann,
Miklós SahinTóth
Publication year - 2007
Publication title -
gut
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 8.413
H-Index - 293
eISSN - 1468-3288
pISSN - 0017-5749
DOI - 10.1136/gut.2006.115725
Subject(s) - missense mutation , mutant , hek 293 cells , secretion , intracellular , biology , trypsin inhibitor , mutation , transfection , microbiology and biotechnology , wild type , trypsin , gene , genetics , biochemistry , enzyme
Mutations of the SPINK1 gene encoding pancreatic secretory trypsin inhibitor have been identified in association with chronic pancreatitis. The vast majority of patients carry the N34S variant, whereas other genetic variants are relatively rare and their disease association is uncertain. The aim of this study was to characterise and compare the functional defects caused by the six published missense mutations that affect mature SPINK1-namely, N34S, D50E, Y54H, P55S, R65Q, and R67C.