Tuberous Sclerosis Protein 1 (TSC1)

Tuberous sclerosis protein 1, also known as TSC1 or hamartin, This peripheral membrane protein was implicated as a tumor suppressor. It may be also involved in vesicular transport and docking, in complex with TSC2.Defects in this gene may cause tuberous sclerosis, due to a functional impairment of the hamartin-tuberin complex. Defects in TSC1 may also be a cause of focal cortical dysplasia.In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling.