title: Chymotrypsin C mutations in chronic pancreatitis.
abstract: Chronic pancreatitis is a persistent inflammatory disorder characterized by destruction of the pancreatic parenchyma, maldigestion, and chronic pain. Mutations in the chymotrypsin C (CTRC) gene encoding the digestive enzyme CTRC have been shown to increase the risk of chronic pancreatitis in European and Asian populations. Here, we review the biochemical properties and physiological functions of human CTRC, summarize the functional defects associated with CTRC mutations, and discuss mechanistic models that might explain the increased disease risk in carriers.
authors.affiliation: Department of Molecular and Cell Biology, Boston University Henry M. Goldman School of Dental Medicine, Boston, MA 02118, USA.
authors.forename: Jiayi
authors.initials: J
authors.lastname: Zhou
authors.forename: Miklós
authors.initials: M
authors.lastname: Sahin-Tóth
mesh_terms: D000595:Amino Acid Sequence; D002918:Chymotrypsin / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D050500:Pancreatitis, Chronic / Q000201:enzymology / Q000235:genetics*; D010641:Phenotype; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D002918:Chymotrypsin; C117569:chymotrypsin C