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Genetics Home Reference: your guide to understanding genetic conditions
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PRSS1

Reviewed October 2012

What is the official name of the PRSS1 gene?

The official name of this gene is “protease, serine, 1 (trypsin 1).”

PRSS1 is the gene's official symbol. The PRSS1 gene is also known by other names, listed below.

What is the normal function of the PRSS1 gene?

The PRSS1 gene provides instructions for making an enzyme called cationic trypsinogen. This enzyme is a serine peptidase, which is a type of enzyme that cuts (cleaves) other proteins into smaller pieces. Cationic trypsinogen is produced in the pancreas and helps with the digestion of food. Cationic trypsinogen is secreted by the pancreas and transported to the small intestine, where it is cleaved to form trypsinogen. When the enzyme is needed, trypsinogen is cleaved again into its working (active) form called trypsin. Trypsin aids in digestion by cutting protein chains at the protein building blocks (amino acids) arginine or lysine, which breaks down the protein. Trypsin also turns on (activates) other digestive enzymes that are produced in the pancreas to further facilitate digestion.

A particular region of trypsin is attached (bound) to a calcium molecule. As long as trypsin is bound to calcium, the enzyme is protected from being broken down. When digestion is complete and trypsin is no longer needed, the calcium molecule is removed from the enzyme, which allows trypsin to be broken down.

Does the PRSS1 gene share characteristics with other genes?

The PRSS1 gene belongs to a family of genes called PRSS (serine peptidases).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the PRSS1 gene related to health conditions?

hereditary pancreatitis - caused by mutations in the PRSS1 gene

More than 40 mutations in the PRSS1 gene have been found to cause hereditary pancreatitis, a condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis), which can lead to a loss of pancreatic function. Most of these mutations change single protein building blocks (amino acids) in cationic trypsinogen. Some PRSS1 gene mutations result in the production of a cationic trypsinogen enzyme that is prematurely converted to trypsin while it is still in the pancreas. Other mutations prevent trypsin from being broken down. The most common PRSS1 gene mutation that causes hereditary pancreatitis replaces the amino acid arginine with the amino acid histidine at position 122 in the enzyme (written Arg122His or R122H). As a result of this mutation, the enzyme is not able to be broken down, even when it is no longer bound to calcium.

Trypsin activity in the pancreas can damage pancreatic tissue and can also trigger an immune response, causing inflammation in the pancreas and leading to episodes of pancreatitis.

Where is the PRSS1 gene located?

Cytogenetic Location: 7q34

Molecular Location on chromosome 7: base pairs 142,749,467 to 142,753,075

The PRSS1 gene is located on the long (q) arm of chromosome 7 at position 34.

The PRSS1 gene is located on the long (q) arm of chromosome 7 at position 34.

More precisely, the PRSS1 gene is located from base pair 142,749,467 to base pair 142,753,075 on chromosome 7.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PRSS1?

You and your healthcare professional may find the following resources about PRSS1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PRSS1 gene or gene products?

  • beta-trypsin
  • cationic trypsinogen
  • TRP1
  • TRY1
  • TRY1_HUMAN
  • TRY4
  • TRYP1
  • trypsin-1
  • trypsin-1 preproprotein
  • trypsinogen 1
  • trypsinogen A

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding PRSS1?

acids ; amino acid ; calcium ; digestion ; digestive ; enzyme ; gene ; immune response ; inflammation ; intestine ; molecule ; mutation ; pancreas ; pancreatic ; pancreatitis ; protease ; protein ; serine ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Howes N, Lerch MM, Greenhalf W, Stocken DD, Ellis I, Simon P, Truninger K, Ammann R, Cavallini G, Charnley RM, Uomo G, Delhaye M, Spicak J, Drumm B, Jansen J, Mountford R, Whitcomb DC, Neoptolemos JP; European Registry of Hereditary Pancreatitis and Pancreatic Cancer (EUROPAC). Clinical and genetic characteristics of hereditary pancreatitis in Europe. Clin Gastroenterol Hepatol. 2004 Mar;2(3):252-61. (http://www.ncbi.nlm.nih.gov/pubmed/15017610?dopt=Abstract)
  • Keiles S, Kammesheidt A. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas. 2006 Oct;33(3):221-7. (http://www.ncbi.nlm.nih.gov/pubmed/17003641?dopt=Abstract)
  • Lal A, Lal DR. Hereditary pancreatitis. Pediatr Surg Int. 2010 Dec;26(12):1193-9. doi: 10.1007/s00383-010-2684-4. Epub 2010 Aug 10. (http://www.ncbi.nlm.nih.gov/pubmed/20697897?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5644)
  • OMIM: PROTEASE, SERINE, 1 (http://omim.org/entry/276000)
  • Rebours V, Lévy P, Ruszniewski P. An overview of hereditary pancreatitis. Dig Liver Dis. 2012 Jan;44(1):8-15. doi: 10.1016/j.dld.2011.08.003. Epub 2011 Sep 9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21907651?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2012
Published: April 7, 2014