Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008],LAM,PPP1R160,TSC4,TSC2,Tuberin,tuberin,AMPK Signaling Pathway,Apoptosis,Autophagy,Autophagy_Regulator,Cancer,Cell Biology & Developmental Biology,Cell Cycle,Cell Cycle_Cell cycle inhibitors,Endocrine & Metabolism,Endocrine and metabolic diseases,Endocrine and metabolic diseases_Obesity,Epigenetics & Nuclear Signaling,G protein signaling,Immunology & Inflammation,Insulin Receptor Signaling Pathway,MAPK-Erk Signaling Pathway,mTOR Signaling Pathway,PI3K-Akt Signaling Pathway,PI3K-Akt Signaling Pathway_Akt downstream targets,Protein phosphorylation,Signal Transduction,Translation Control,Translational Control_Regulation of eIF4 and p70 S6 Kinase,Tumor suppressors,TSC2