Immunogen
The antiserum was produced against synthesized peptide derived from human Tuberin/TSC2. AA range:1428-1477
Specificity
Tuberin Polyclonal Antibody detects endogenous levels of Tuberin protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
IHC: 1/100 - 1/300. ELISA: 1/5000.. IF 1:50-200
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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],
Function
alternative products:Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms,disease:Defects in TSC2 are a cause of lymphangioleiomyomatosis (LAM) [MIM:606690]. LAM is a progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex.,disease:Defects in TSC2 are the cause of tuberous sclerosis complex (TSC) [MIM:191100]. The molecular basis of TSC is a functional impairment of the tuberin-hamartin 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 (de
Other name
TSC2; TSC4; Tuberin; Tuberous sclerosis 2 protein
Fields
>>Phospholipase D signaling pathway;>>p53 signaling pathway;>>Autophagy - animal;>>mTOR signaling pathway;>>PI3K-Akt signaling pathway;>>AMPK signaling pathway;>>Longevity regulating pathway;>>Cellular senescence;>>Thermogenesis;>>Insulin signaling pathway;>>Thyroid hormone signaling pathway;>>Human cytomegalovirus infection;>>Human papillomavirus infection;>>Herpes simplex virus 1 infection;>>Choline metabolism in cancer
Human protein sequence Database
P49815
Mouse protein sequence database
Q61037
Rat protein sequence database
P49816
Cellular localization
Cytoplasm. Membrane; Peripheral membrane protein. At steady state found in association with membranes.
Tissue expression
Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta.
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