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CTRC

From SNPedia
is agene
is mentioned by
ClinVarCTRC
GeneCardsCTRC
DiseasesCTRC
wikipediaCTRC
googleCTRC
gopubmedCTRC
EVSCTRC
HEFalMpCTRC
MyGene2CTRC
23andMeCTRC
# SNPs5
 Max MagnitudeChromosome positionSummary
rs121909293015,445,717
rs121909294015,440,524
rs202058123015,445,606
rs515726209015,440,577
rs515726210015,445,695

The CTRC gene on chromosome 1 encodes the chymotrypsin C enzyme, also known as caldecrin or elastase 4.Wikipedia

Dominantly inherited mutations in the CTRC gene have been reported as pathogenic for a variety of forms of hereditary pancreatitis, an inflammation of the pancreas. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function.GHR

From 10.1016/j.jpeds.2017.03.063: CTRC mutations have been shown to occur in 0.7% of healthy controls and 2.9%-3.3% of adults with CP.28 We have found that CTRC mutations were significantly more likely to occur in children with EOP (14%), suggesting that abnormalities to this trypsin-degrading pathway may be particularly important to disease pathogenesis among this cohort. .. The mutations reported here are likely disease-causing, given that all but one are projected to lead to amino acid substitutions or frameshift mutations.