|Other Names||Tuberin, Tuberous sclerosis 2 protein, TSC2, TSC4|
|Target/Specificity||The synthetic peptide sequence used to generate the antibody AP3477a was selected from the region of human Phospho-TSC2-S540. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||In complex with TSC1, this tumor suppressor inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. May also play a role in microtubule-mediated protein transport. Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5.|
|Cellular Location||Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association with membranes|
|Tissue Location||Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta|
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Mutations in TSC2 lead to tuberous sclerosis complex. The protein is believed to be a tumor suppressor and is able to specifically stimulate the intrinsic GTPase activity of the Ras-related protein RAP1A and RAB5. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. TSC2 may have a function in vesicular transport, but may also play a role in the regulation of cell growth arrest and in the regulation of transcription mediated by steroid receptors. Interaction between TSC1 and TSC2 may facilitate vesicular docking.
Li, Y., et al., Mol. Cell. Biol. 24(18):7965-7975 (2004).Karbowniczek, M., et al., J. Biol. Chem. 279(29):29930-29937 (2004).Corradetti, M.N., et al., Genes Dev. 18(13):1533-1538 (2004).Birchenall-Roberts, M.C., et al., J. Biol. Chem. 279(24):25605-25613 (2004).Lewis, J.C., et al., J. Med. Genet. 41(3):203-207 (2004).
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