Phospho Tuberin/TSC2 (S939) Cell-Based Colorimetric ELISA Kit_ImmunoWay Biotechnology Company |抗体|病理抗体|诊断抗体

Phospho Tuberin/TSC2 (S939) Cell-Based Colorimetric ELISA Kit

Catalog No.：KA1346C
Applications：ELISA
Reactivity：Human;Mouse;Rat

Description
References ( 0 )
Protocol

Gene Name：
TSC2

Human Gene Id：
7249

Human Swiss Prot No：
P49815

Mouse Swiss Prot No：
Q61037

Rat Swiss Prot No：
P49816

Storage Stability：
2-8°C/6 months

Other Name：
Tuberin (Tuberous sclerosis 2 protein)

Detection Method：
Colorimetric

Background：
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 (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.,function:Implicated as a tumor suppressor. May have a function in vesicular transport, but may also play a role in the regulation of cell growth arrest and in the regulation of transcription mediated by steroid receptors. Interaction between TSC1 and TSC2 may facilitate vesicular docking. Specifically stimulates the intrinsic GTPase activity of the Ras-related protein RAP1A and RAB5. Suggesting a possible mechanism for its role in regulating cellular growth. Mutations in TSC2 leads to constitutive activation of RAP1A in tumors.,online information:TSC2 mutation db,PTM:Phosphorylation at Ser-1387, Ser-1418 or Ser-1420 does not affect interaction with TSC1.,similarity:Contains 1 Rap-GAP domain.,subcellular location:At steady state found in association with membranes.,subunit:Interacts with TSC1 and HERC1; the interaction with TSC1 stabilizes TSC2 and prevents the interaction with HERC1. May also interact with the adapter molecule RABEP1. The final complex contains TSC2 and RABEP1 linked to RAB5 (Probable). Interacts with HSPA1 and HSPA8.,tissue specificity:Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta.,

Function：
embryonic epithelial tube formation, neural tube formation, neural tube closure, regulation of cell-matrix adhesion,morphogenesis of an epithelium, acute inflammatory response, protein complex assembly, negative regulation of protein kinase activity, protein targeting, protein import into nucleus, intracellular protein transport, endocytosis,nucleocytoplasmic transport, chemotaxis, defense response, acute-phase response, inflammatory response, cell surface receptor linked signal transduction, enzyme linked receptor protein signaling pathway, transmembrane receptor protein tyrosine kinase signaling pathway, intracellular signaling cascade, protein kinase cascade, heart development, behavior, locomotory behavior, protein localization, negative regulation of cell proliferation, regulation of cell size, response to wounding, embryonic development ending in birth or egg hatching, negative reg