Gene TSC2
Back to Curriculum
Also known as
Tuberous sclerosis 2, Tuberin, TSCOverview
TSC2 (Tuberous Sclerosis Complex 2) encodes the protein tuberin, which partners with hamartin (encoded by TSC1) to form a critical tumor suppressor complex that negatively regulates the mTOR pathway. This pathway controls fundamental cellular processes including growth, proliferation, autophagy, and metabolism. The TSC1-TSC2 complex acts as a cellular growth checkpoint.Pathogenic variants in TSC2 are responsible for the majority of tuberous sclerosis complex (TSC) cases and tend to be associated with more severe manifestations compared to TSC1 mutations. TSC is characterized by the development of benign tumors throughout the body, particularly in the brain, skin, kidneys, heart, eyes, and lungs. Neurological features including epilepsy, cognitive impairment, and autism spectrum disorder are common, along with distinctive skin lesions and the potential for renal angiomyolipomas.
Early genetic diagnosis through carrier screening or prenatal testing is valuable for family planning and clinical management. Advances in targeted therapy, particularly mTOR inhibitors, have revolutionized treatment outcomes for individuals with TSC, highlighting the importance of molecular diagnosis in guiding therapeutic decisions.