Engelsk definition
An intracellular signaling and tumor suppressor protein that forms a complex with TUBEROUS SCLEROSIS COMPLEX 2 PROTEIN (TSC2) and other signaling factors to negatively regulate MTORC1 signaling and affect cell growth and proliferation. Structurally, it interacts with TSC2 through its N-terminal, which also contains GSK-3BETA phosphorylation sites and a RHO-KINASE activation domain. It also contains a C-terminal coiled-coil domain and ezrin-radixin-moesin (ERM) domain. Mutations in the TSC1 gene are associated with TUBEROUS SCLEROSIS.