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|Tested species reactivity||Human|
|Published species reactivity||Human|
|Host / Isotype||Mouse / IgG1|
|Immunogen||Recombinant human Hamartin protein|
|Storage buffer||PBS, pH 7.4|
|Contains||0.1% sodium azide|
|Tested Applications||Dilution *|
|ELISA (ELISA)||Assay Dependent|
|Immunoprecipitation (IP)||Assay Dependent|
|Western Blot (WB)||Assay Dependent|
* Suggested working dilutions are given as a guide only. It is recommended that the user titrate the product for use in their own experiment using appropriate negative and positive controls.
|Immunoprecipitation (IP)||See 1 publications below|
Implicated as a tumor suppressor. 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1.
||Dibble CC,Elis W,Menon S,Qin W,Klekota J,Asara JM,Finan PM,Kwiatkowski DJ,Murphy LO,Manning BD||Molecular cell (47:535)||2012|
hamartin, tuberous sclerosis 1 protein, tumor suppressor, LAM, TSC