CTRC
| is a | gene |
| is | mentioned by |
| ClinVar | CTRC |
| GeneCards | CTRC |
| Diseases | CTRC |
| wikipedia | CTRC |
| CTRC | |
| gopubmed | CTRC |
| EVS | CTRC |
| HEFalMp | CTRC |
| MyGene2 | CTRC |
| 23andMe | CTRC |
| # SNPs | 5 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs121909293 | 0 | 15,445,717 | |
| rs121909294 | 0 | 15,440,524 | |
| rs202058123 | 0 | 15,445,606 | |
| rs515726209 | 0 | 15,440,577 | |
| rs515726210 | 0 | 15,445,695 |
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.
