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    CTRC chymotrypsin C [ Homo sapiens (human) ]

    Gene ID: 11330, updated on 5-Mar-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Risk of chronic pancreatitis in carriers of the c.180C>T (p.Gly60=) CTRC variant: case-control studies and meta-analysis.

    Risk of chronic pancreatitis in carriers of the c.180C>T (p.Gly60=) CTRC variant: case-control studies and meta-analysis.
    Berke G, Beer S, Gede N, Takáts A, Szentesi A, Hegyi P, Rosendahl J, Sahin-Tóth M, Németh BC, Hegyi E.,

    11/10/2023
    Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis.

    Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis.
    Takáts A, Berke G, Gede N, Németh BC, Witt H, Głuszek S, Rygiel AM, Hegyi P, Sahin-Tóth M, Hegyi E., Free PMC Article

    05/28/2022
    Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.

    Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
    Girodon E, Rebours V, Chen JM, Pagin A, Levy P, Ferec C, Bienvenu T.

    09/18/2021
    Chronic pancreatitis with polycystic kidney disease: A rare coincidence?

    Chronic pancreatitis with polycystic kidney disease: A rare coincidence?
    Hrčková G, Hegyi E, Skalická K, Čierna I, Dallos T, Ilenčíková D.

    06/12/2021
    Association between genetic variants in CYP2E1 and CTRC genes and susceptibility to alcoholic pancreatitis: A systematic review and meta-analysis.

    Association between genetic variants in CYP2E1 and CTRC genes and susceptibility to alcoholic pancreatitis: A systematic review and meta-analysis.
    Usategui-Martín R, Carbonell C, Novo-Veleiro I, Hernández-Pinchete S, Mirón-Canelo JA, Chamorro AJ, Marcos M.

    03/27/2021
    Inactivation of mesotrypsin by chymotrypsin C prevents trypsin inhibitor degradation.

    Inactivation of mesotrypsin by chymotrypsin C prevents trypsin inhibitor degradation.
    Toldi V, Szabó A, Sahin-Tóth M., Free PMC Article

    12/12/2020
    No relationship between the c.738_761del and p.Arg254Trp mutations and the development of alcoholic chronic pancreatitis was found

    Do CTRC mutations affect the development of alcoholic chronic pancreatitis and its course among Poles: Preliminary study.
    Cichoż-Lach H, Michalak-Wojnowska M, Lis-Janczarek E, Wojcierowski J, Hydzik M.

    10/26/2019
    CTRC variants, including p.Gly60Gly (c.180C>T) variant are significant chronic pancreatitis risk factors in pediatric patients. Screening for CTRC variants should be always considered in routine molecular diagnostics in early onset chronic pancreatitis.

    Chymotrypsinogen C Genetic Variants, Including c.180TT, Are Strongly Associated With Chronic Pancreatitis in Pediatric Patients.
    Grabarczyk AM, Oracz G, Wertheim-Tysarowska K, Kujko AA, Wejnarska K, Kolodziejczyk E, Bal J, Koziel D, Kowalik A, Gluszek S, Rygiel AM.

    05/19/2018
    Our preliminary results show that the CTRC polymorphism p.G60= (c.180C>T) is frequent in patients with pancreatic cancer. However, further research is needed to verify our findings.

    CTRC gene polymorphism may increase pancreatic cancer risk - preliminary study.
    Głuszek S, Kowalik A, Kozieł D, Wawrzycka I, Głuszek-Osuch M, Matykiewicz J.

    12/9/2017
    Gene mutations were present in PRSS1 in 26 patients with acute recurrent and chronic pancreatitis, SPINK1 in 23, CTRC in 3, and CPA1 in 5. In the 31 patients with mutations in SPINK1, CTRC, or CPA1, 16 (51.6%) had homozygous or heterozygous mutations with other mutations.

    Genetic Analysis of Japanese Children With Acute Recurrent and Chronic Pancreatitis.
    Saito N, Suzuki M, Sakurai Y, Nakano S, Naritaka N, Minowa K, Sai JK, Shimizu T.

    11/26/2017
    Early-onset pancreatitis is associated strongly with PRSS1 or CTRC mutations and family history of pancreatitis.

    Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.
    Giefer MJ, Lowe ME, Werlin SL, Zimmerman B, Wilschanski M, Troendle D, Schwarzenberg SJ, Pohl JF, Palermo J, Ooi CY, Morinville VD, Lin TK, Husain SZ, Himes R, Heyman MB, Gonska T, Gariepy CE, Freedman SD, Fishman DS, Bellin MD, Barth B, Abu-El-Haija M, Uc A., Free PMC Article

    09/9/2017
    CTRC polymorphism increases the risk of an acute pancreatitis occurrence and together with the SPINK 1 mutation, may be responsible for a more severe course of the disease.

    CTRC gene polymorphism (p.G60=; c.180 C > T) in acute pancreatitis.
    Koziel D, Gluszek S, Kowalik A, Chlopek M., Free PMC Article

    02/18/2017
    One patient carried a heterozygous CTRC p.P249L pathogenic variant, which is a known high-risk variant for pancreatitis.

    PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis.
    Cho SM, Shin S, Lee KA., Free PMC Article

    02/18/2017
    Human anionic trypsinogen is controlled by CTRC in a manner that individual natural mutations are unlikely to increase stability enough to promote intra-pancreatic activation.

    Tighter Control by Chymotrypsin C (CTRC) Explains Lack of Association between Human Anionic Trypsinogen and Hereditary Pancreatitis.
    Jancsó Z, Sahin-Tóth M., Free PMC Article

    11/19/2016
    Letter: CTRC intron mutations associated with acute or chronic pancreatitis.

    Report of 2 CTRC Intronic Mutations Associated With Acute or Chronic Pancreatitis and Delineation of Their Pathogenic Molecular Mechanisms.
    Masson E, Chen JM, Férec C.

    04/16/2016
    In Israel, pediatric as well as adult recurrent acute pancreatitis and chronic pancreatitis are often associated with cationic trypsinogen, serine protease inhibitor Kazal type 1, CTRC, or Cystic Fibrosis Transmembrane Conductance Regulator mutations.

    Genetic and electrophysiological characteristics of recurrent acute pancreatitis.
    Werlin S, Konikoff FM, Halpern Z, Barkay O, Yerushalmi B, Broide E, Santo E, Shamir R, Shaoul R, Shteyer E, Yaakov Y, Cohen M, Kerem E, Ruszniewski P, Masson E, Ferec C, Wilschanski M.

    02/27/2016
    Mutations in SPINK 1, CFTR and CTRC were detected in 6.3%, 2.3% and 1.8% of patients with acute pancreatitis versus 3.2%, 3.8% and 1.2% of controls. No relationship was found between the detected mutations and severity of pancreatitis.

    Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.
    Koziel D, Gluszek S, Kowalik A, Chlopek M, Pieciak L., Free PMC Article

    02/6/2016
    Loss-of-function mutations in CTRC increase the risk for chronic pancreatitis. Describe functional analysis of eight previously uncharacterized natural CTRC variants tested for potential defects in secretion, proteolytic stability, and catalytic activity.

    Mesotrypsin Signature Mutation in a Chymotrypsin C (CTRC) Variant Associated with Chronic Pancreatitis.
    Szabó A, Ludwig M, Hegyi E, Szépeová R, Witt H, Sahin-Tóth M., Free PMC Article

    10/3/2015
    Expression of endoplasmic reticulum stress associated CTRC mutants reduces the levels of acetylated tubulin by increasing both the levels and phosphorylation of the deacetylase SIRT2.

    ER stress-associated CTRC mutants decrease stimulated pancreatic zymogen secretion through SIRT2-mediated microtubule dysregulation.
    Binker MG, Richards D, Gaisano HY, Cosen-Binker LI.

    09/12/2015
    None of the selected 121 pancreatic cancer samples showed a pancreatitis-predisposing mutation in the CTRC gene.

    CFTR, SPINK1, PRSS1, and CTRC mutations are not associated with pancreatic cancer in German patients.
    Schubert S, Traub F, Brakensiek K, von Kopylow K, Marohn B, Maelzer M, Gaedcke J, Kreipe H, Stuhrmann M.

    05/30/2015
    Rare CTRC genotypes contributed to the development of idiopathic chronic pancreatitis in 4.3% of cases.

    A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
    Masson E, Chen JM, Audrézet MP, Cooper DN, Férec C., Free PMC Article

    05/3/2014
    Chymotrypsin C variants reveals distinct loss-of-function mechanisms associated with chronic pancreatitis risk.

    Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
    Beer S, Zhou J, Szabó A, Keiles S, Chandak GR, Witt H, Sahin-Tóth M., Free PMC Article

    12/21/2013
    This study on a large cohort of tropical calcific pancreatitis patients provides evidence of allelic heterogeneity and confirms that CTRC variants play a significant role in its pathogenesis.

    Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.
    Paliwal S, Bhaskar S, Mani KR, Reddy DN, Rao GV, Singh SP, Thomas V, Chandak GR.

    12/21/2013
    long-range electrostatic attraction toward substrates of concentrated negative charge governs substrate discrimination, which explains CTRC selectivity in regulating active digestive enzyme levels

    Long-range electrostatic complementarity governs substrate recognition by human chymotrypsin C, a key regulator of digestive enzyme activation.
    Batra J, Szabó A, Caulfield TR, Soares AS, Sahin-Tóth M, Radisky ES., Free PMC Article

    06/1/2013
    Frequencies of CFTR variants p.R75Q, p.I148T, 5T-allele and p.E528E were comparable in patients and controls. We identified 103 CFTR variants, which represents a 2.7-fold risk increase (p<0.0001).

    CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
    Rosendahl J, Landt O, Bernadova J, Kovacs P, Teich N, Bödeker H, Keim V, Ruffert C, Mössner J, Kage A, Stumvoll M, Groneberg D, Krüger R, Luck W, Treiber M, Becker M, Witt H.

    05/18/2013
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