The TSC1 gene, located on chromosome 9, encodes a protein called hamartin, which plays a crucial role in regulating cell growth and proliferation. Mutations in the TSC1 gene are associated with tuberous sclerosis complex (TSC), a genetic disorder characterized by the development of benign tumors in various organs.
TSC1 (hamartin) and TSC2 (tuberin) form a complex that plays a critical role in regulating the mTOR (mechanistic target of rapamycin) pathway.
• The TSC1/TSC2 complex acts as a negative regulator of mTOR signaling; when active, it helps suppress cell growth and proliferation.
TSC1 and TSC2 serve as tumor suppressors.
TSC1 and TSC2 are not overexpressed in cancer; they are typically involved in loss-of-function scenarios that lead to tumorigenesis.
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