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Comprehensive Functional Analysis Of Chymotrypsin C (Ctrc) Variants Reveals Distinct Loss-Of-Function Mechanisms Associated With Pancreatitis Risk.

Gut.. 2012-09; 10:1136

Beer S, Zhou J, Szabó A, Keiles S, Chandak GR, Witt H, Sahin-Tóth M. Henry M. Goldman School of Dental Medicine, Boston University, Boston, Massachusetts, USA.

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摘要

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.