Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mental retardation and the widespread development of distinctive tumors termed hamartomas. TSC2 acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1.It is involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. TSC2 stimulates weakly the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 in vitro.
