This pathway has a strong functional relation with TSC disease, as it is known that mutations in TSC1/2 genes impair the inhibitory function of the hamartin/tuberin complex, leading to phosphorylation (activation) of ribosomal protein S6 kinase beta-1 (S6K1), a serine/threonine kinase which is a downstream target of mTOR45. The gene discussed is TSC1; the disease is tuberous sclerosis.