|Other Names||Hamartin, Tuberous sclerosis 1 protein, TSC1, KIAA0243, TSC|
|Target/Specificity||The synthetic peptide sequence used to generate the antibody AP3498a was selected from the region of human Phospho-TSC1-T417. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.|
|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 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.|
|Cellular Location||Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association with membranes|
|Tissue Location||Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells|
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TSC1 is implicated as a tumor suppressor. It may have a function in vesicular transport. Interaction between TSC1 and TSC2 may facilitate vesicular docking.Defects in TSC1 are the cause of tuberous sclerosis complex (TSC). The molecular basis of TSC is a functional impairement of the hamartin-tuberin complex. TSC is an autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. TSC is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical symptoms can range from benign hypopigmented macules of the skin to profound mental retardation with intractable seizures to premature death from a variety of disease-associated causes.Defects in TSC1 may be a cause of focal cortical dysplasia of Taylor balloon cell type (FCDBC). FCDBC is a subtype of cortical displasias linked to chronic intractable epilepsy. Cortical dysplasias display a broad spectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, and apoptosis of neuronal precursors and neurons during cortical development.
Wu, J., et al., J. Cutan. Pathol. 31(5):383-387 (2004).Lewis, J.C., et al., J. Med. Genet. 41(3):203-207 (2004).J, et al., J. Child Neurol. 19(2):102-106 (2004).Murthy, V., et al., J. Biol. Chem. 279(2):1351-1358 (2004).Astrinidis, A., et al., J. Biol. Chem. 278(51):51372-51379 (2003).
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