Tuberin, the protein product of the TSC2 gene, is a tumor suppressor that plays a critical role in regulating cell growth, proliferation, and survival. It functions as a negative regulator in the mammalian target of rapamycin (mTOR) pathway, which controls cell growth in response to nutrients, growth factors, and energy status. Tuberin forms a complex with hamartin, another protein encoded by the TSC1 gene, and this complex functions to inhibit the GTPase activity of Rheb, a small G-protein that activates mTOR. Tuberin is sensitive to various cellular signals and can be modulated by a range of receptor tyrosine kinases (RTKs) and G protein-coupled receptors (GPCRs), indicating its role in integrating diverse cellular signals. It is also involved in other cellular processes such as transcriptional regulation, DNA repair, and endocytosis. Mutations or loss of function of tuberin lead to constitutive activation of the mTOR pathway, resulting in uncontrolled cell growth and proliferation, which is a hallmark of tuberous sclerosis complex (TSC), a genetic disorder characterized by the development of benign tumors in multiple organs.
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