TSC2

The TSC2 gene provides instructions for producing a protein called tuberin. While the function of tuberin is not fully understood, it is known that within cells this protein interacts with another protein called hamartin. These two proteins likely function together as a protein complex that helps regulate cell growth and size. Proteins that normally prevent cells from growing and dividing too fast or in an uncontrolled way are known as tumor suppressors.

tuberous sclerosis - caused by mutations in the TSC2 gene

Several hundred mutations in the TSC2 gene have been identified in individuals with tuberous sclerosis. Most mutations insert or delete a small number of bases (the building blocks of DNA) within the TSC2 gene. Other mutations change a single base in the TSC2 gene or create a premature stop signal in the instructions for making tuberin. The resulting abnormal protein cannot form a complex with hamartin. Loss of this protein complex causes an overgrowth of cells which grow too large and/or divide too often, resulting in noncancerous tumors in many tissues of the body.

other disorders - caused by mutations in the TSC2 gene

Mutations in the TSC2 gene may also cause a disorder called lymphangioleiomyomatosis. This destructive lung disease is caused by the abnormal overgrowth of smooth muscle tissue in the lungs. Symptoms include coughing, shortness of breath, chest pain, and lung collapse. This condition can occur alone or in combination with tuberous sclerosis.