TSC2: Proteins and Enzymes

TSC2, also called tuberin, complexes with TSC1 (hamartin) to inhibit cell proliferation by antagonizing mTOR/p70S6K signaling. Its location either in the cytoplasm or the nucleus is regulated by phosphorylation and the cell cycle. Numerous point mutations are associated with development of tumors (hamartomas) in kidney, heart, skin and brain. Human TSC2 shares 91% amino acid (aa) identity with mouse TSC2 over aa 550-850. Splice variants that are missing aa 946 to 988 or 989 may show different tissue distribution than full length TSC2.