tuberin
Tuberin is a protein encoded by the TSC2 gene in humans. It plays a crucial role in regulating cell growth and division, particularly in response to nutrient availability. Tuberin is part of a larger complex that helps control the mTOR signaling pathway, which is essential for cellular metabolism and growth.
Mutations in the TSC2 gene can lead to tuberous sclerosis, a genetic disorder characterized by the growth of benign tumors in various organs. This condition can cause a range of symptoms, including seizures, developmental delays, and skin abnormalities. Understanding tuberin's function is important for developing potential treatments for related disorders.