Also known asBTPS2, DESMD, DP2, DP2.5, DP3, GS, PPP1R46
The APC gene provides instructions for making a protein called adenomatous polyposis coli. This protein is involved in the regulation of cell growth and division, and it plays a role in the development of normal tissue during embryonic development. The APC protein is also involved in the repair of damaged DNA and in the maintenance of the genetic stability of cells.
Mutations in the APC gene are a common cause of a type of inherited cancer called familial adenomatous polyposis (FAP). FAP is characterized by the development of numerous precancerous polyps in the colon and rectum. If these polyps are not removed, they can develop into colon cancer. Individuals with FAP have a high risk of developing colon cancer at a young age, often before the age of 40. Treatment for FAP may include regular colonoscopies to remove polyps, medications to reduce the number of polyps, and surgery to remove the colon and rectum.