Tuberin (TSC2) Antibody – Rabbit Polyclonal

Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

TSC2: a product of the tumor suppressor gene TSC2. Tuberin and Hamartin (TSC1) form a tumor suppressor heterodimer that inhibits the mTOR nutrient signaling input. TSC1/TSC2 targets the small G protein Rheb, a novel mediator of the nutrient signaling input to mTOR. Functions as a Rheb GTPase activating protein (GAP). Four alternatively spliced isoforms have been described.

Protein type: GAPs, misc.; Nuclear receptor co-regulator; Cell cycle regulation; GAPs; Tumor suppressor

Chromosomal Location of Human Ortholog: 16p13.3

Cellular Component: TSC1-TSC2 complex; Golgi apparatus; growth cone; cytoskeleton; cell soma; membrane; perinuclear region of cytoplasm; dendrite; cytoplasm; caveola; nucleus; cytosol

Molecular Function: protein binding; protein homodimerization activity; protein heterodimerization activity; GTPase activator activity; phosphatase binding

Biological Process: negative regulation of MAP kinase activity; phosphoinositide 3-kinase cascade; regulation of insulin receptor signaling pathway; negative regulation of Wnt receptor signaling pathway; nerve growth factor receptor signaling pathway; protein heterooligomerization; regulation of cell cycle; heart development; negative regulation of insulin receptor signaling pathway; negative regulation of cell size; negative regulation of cell proliferation; protein localization; cell projection organization and biogenesis; positive chemotaxis; protein import into nucleus; regulation of endocytosis; protein kinase B signaling cascade; acute-phase response; cell cycle arrest; protein homooligomerization; negative regulation of epithelial cell proliferation; epidermal growth factor receptor signaling pathway; negative regulation of TOR signaling pathway; negative regulation of protein kinase B signaling cascade; fibroblast growth factor receptor signaling pathway; phosphoinositide-mediated signaling; endocytosis; vesicle-mediated transport; insulin-like growth factor receptor signaling pathway; glucose import; neural tube closure; response to hypoxia; insulin receptor signaling pathway; negative regulation of protein kinase activity; innate immune response; positive regulation of transcription from RNA polymerase II promoter; negative regulation of phosphoinositide 3-kinase cascade

Disease: Lymphangioleiomyomatosis; Tuberous Sclerosis 2