SPINK1

SPINK1 is a gene that provides instructions for making a protein called pancreatic secretory trypsin inhibitor. This protein, which is made in the pancreas, plays a role in preventing the pancreas from digesting itself. The SPINK1 gene is located on the long (q) arm of chromosome 5 at position 32.

Function

The SPINK1 gene provides instructions for making a protein called pancreatic secretory trypsin inhibitor. This protein, which is made in the pancreas, plays a role in preventing the pancreas from digesting itself. Specifically, it blocks the activity of an enzyme called trypsin that helps digest food in the small intestine. If trypsin is not properly regulated, it can start to break down the tissues of the pancreas, leading to inflammation and damage.

Genetic Changes

More than 30 mutations in the SPINK1 gene have been found to cause hereditary pancreatitis. These mutations lead to the production of a pancreatic secretory trypsin inhibitor protein that is less able to control the activity of trypsin. As a result, trypsin can more easily damage the pancreas and cause pancreatitis.

Associated Conditions

Mutations in the SPINK1 gene are associated with chronic pancreatitis, which is inflammation of the pancreas that does not heal or improve, gets worse over time, and leads to permanent damage. Chronic pancreatitis is characterized by abdominal pain and digestive problems. It can also increase the risk of developing pancreatic cancer.

See Also

• Pancreas
• Trypsin
• Hereditary pancreatitis
• Pancreatic cancer

References

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