Anti-TSC1 (Hamartin)

0.5mg/ml if reconstituted with 0.2ml sterile DI water. TSC1 (Tuberous Sclerosis 1), also called Hamartin, is a human protein and gene. As part of a comprehensive strategy to identify the gene mutant in tuberous sclerosis-1, van Slegtenhorst et al.(1997) developed an overlapping contig of clones from the 1.4-Mb TSC1 region on chromosome 9. Benvenuto et al.(2000) showed that overexpression of the TSC1 gene in rat fibroblasts inhibits growth and causes changes in cell morphology. Van Slegtenhorst et al.(1998) showed that hamartin and tuberin associate physically in vivo, however, and that the interaction is mediated by predicted coiled-coil domains. Protein function: In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. [The UniProt Consortium]