TSC2 (tuberous sclerosis complex 2)

TSC2 is a gene that produces a protein called tuberin, which helps regulate cell growth and division. It works as a part of a system that keeps cell growth in check, preventing uncontrolled cell proliferation. When TSC2 is mutated or dysfunctional, this regulation fails, leading to the formation of benign tumors in various organs—a condition known as tuberous sclerosis complex (TSC). TSC2 mutations contribute significantly to the disease, which can cause a range of issues, including seizures, developmental delays, and skin abnormalities. Understanding TSC2 is essential for diagnosing and managing tuberous sclerosis.