Article
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
Gut - 1 Nov 2013
Beer Sebastian, Zhou Jiayi, Szabó András, Keiles Steven, Chandak Giriraj Ratan, Witt Heiko, Sahin-Tóth Miklós
Abstract excerpt
OBJECTIVE: The digestive enzyme chymotrypsin C (CTRC) protects against pancreatitis by promoting degradation of trypsinogen, thereby curtailing potentially harmful trypsinogen activation. Loss-of-function variants in CTRC increase the risk for chronic pancreatitis. The aim of the present study was to perform comprehensive functional analysis of all missense CTRC variants identified to date. DESIGN: We...
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