免疫原
Synthesized phosho peptide around human Tuberin(Ser1254)
特异性
This antibody detects endogenous levels of Human Mouse Rat Tuberin/TSC2 (phospho-Ser1254)
来源
Polyclonal, Rabbit,IgG
组成(Formulation)
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺(Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
背景(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],
功能
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
基因名称(Gene Name)
TSC2 TSC4
蛋白名称
Tuberin/TSC2 (Ser1254)
其他名称
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
细胞定位
Cytoplasm. Membrane; Peripheral membrane protein. At steady state found in association with membranes.
组织表达
Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta.