CELA1

CELA1 (Chymotrypsin-like elastase family, member 1) is a gene that encodes a member of the peptidase S1 family. The encoded protein is an enzyme that performs a crucial role in the digestive system. It is secreted by the pancreas and breaks down elastin, a protein that contributes to the elasticity of various tissues in the body.

Function

The CELA1 gene provides instructions for making an enzyme called elastase 1. This enzyme is produced in the pancreas and helps digest proteins from the diet. Elastase 1 is part of a group of enzymes called serine proteases, which break down proteins into smaller pieces (peptides) that the body can use.

Clinical significance

Mutations in the CELA1 gene can lead to pancreatic disease, including chronic pancreatitis and pancreatic cancer. These mutations can alter the structure of elastase 1, impairing its ability to break down proteins. As a result, the enzyme can build up in the pancreas and damage this organ's cells, leading to inflammation and disease.

Research

Research into the CELA1 gene and its associated protein may lead to new treatments for pancreatic diseases. Understanding how mutations in this gene lead to disease can also help scientists develop genetic tests to identify individuals at risk.

See also

• Elastase
• Pancreatic elastase
• Serine protease
• Chronic pancreatitis
• Pancreatic cancer