| General information | Literature | Expression | Regulation | Mutation | Interaction |
Basic Information | |
|---|---|
Gene ID | 5644 |
Name | PRSS1 |
Synonymous | TRP1|TRY1|TRY4|TRYP1;protease, serine, 1 (trypsin 1);PRSS1;protease, serine, 1 (trypsin 1) |
Definition | beta-trypsin|cationic trypsinogen|digestive zymogen|nonfunctional trypsin 1|trypsin-1|trypsinogen 1|trypsinogen A |
Position | 7q32-qter|7q34 |
Gene type | protein-coding |
Cancer type | Abstract |
| chronic pancreatitis;Gastrointestinal | Hereditary chronic pancreatitis (HCP) is a rare disease in which chronic pancreatitis develops in childhood. HCP has autosomal dominant inheritance with approximately 80% penetrance. Diagnostic criteria are not universally agreed upon but the EUROPAC trial defined it as two first-degree relatives or at least 3 second-degree relatives in two or more generations, with chronic pancreatitis for which there is no other etiology. The gene for HCP was originally identified on chromosome 7 and subsequently many other genes have been reported to be associated with HCP. To date, no single genetic alteration has been found that is necessary for the development of HCP. In a recent study, 81% of patients with HCP were found to have a mutation of the PRSS1 gene. Patients with HCP are at risk for developing exocrine and endocrine insufficiency and there is a 50-fold increased risk of pancreatic cancer in HCP patients as compared with the generalpopulation. |