TSC1 Antibody
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中文名稱：TSC1兔多克隆抗體
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貨號：CSB-PA025113GA01HU
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規格：￥3,900
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其他：
產品詳情
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Uniprot No.：
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基因名：
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別名：Hamartin antibody; kiaa0243 antibody; LAM antibody; TSC antibody; Tsc1 antibody; Tsc1 gene antibody; TSC1_HUMAN antibody; Tuberous sclerosis 1 antibody; Tuberous sclerosis 1 protein antibody; tumor suppressor antibody
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宿主：Rabbit
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反應種屬：Human,Mouse,Rat
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免疫原：Human hamartin
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產品提供形式：Liquid
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應用范圍：ELISA,WB
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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貨期：Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
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功能：In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. Acts as a co-chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning of protein clients such as kinases, TSC2 and glucocorticoid receptor NR3C1. Increases ATP binding to HSP90AA1 and inhibits HSP90AA1 ATPase activity. Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins. Recruits TSC2 to HSP90AA1 and stabilizes TSC2 by preventing the interaction between TSC2 and ubiquitin ligase HERC1.
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基因功能參考文獻：
- Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation PMID: 29897930
- Knockout of either TSC1 or DEPDC5 led to enhanced HIV-1 reactivation in both a T-cell and a monocyte cell lines. PMID: 30087333
- Findings indicate six novel mutations: four in the tuberous sclerosis 2 protein (TSC2) gene, of which one is nonsense, two frame shift and one large deletion of 16 exons; and two in the tuberous sclerosis 1 protein (TSC1) gene, one nonsense and other frame shift. PMID: 29932062
- Tuberous sclerosis complex Chinese Han patients with TSC2 mutations had a higher frequency of mental retardation and there were no significant differences of seizures and skin lesions with TSC1 mutations. PMID: 29740858
- All of examined patients had TSC 1 gene exon 15 c.1846delG p.A616Pfs*13 mutation. PMID: 29803333
- TSC1 and mitochondrial DNA mutations were also confirmed in her son PMID: 29960980
- our study demonstrated high rate of TSC1/2 mutations among clinically diagnosed Russian TS patients. A significant share of these mutations was represented by large gene rearrangements. PMID: 29476190
- a novel TSC1 frameshift mutation was associated with an isolated focal cortical dysplasia type IIb in the absence of further CNS abnormalities PMID: 28762286
- Authors next identified miR-130a to be a negative regulator of TSC1 by targeting its 3'UTR. miR-130a was overexpressed in HGSOC and could drive proliferation and invasion/metastasis of ovarian cancer cells. PMID: 28800130
- All tuberous sclerosis patients were found to have mutations, which included 1 case with tuberous sclerosis 1 protein (TSC1) mutation and 9 cases with tuberous sclerosis 2 protein (TSC2) mutations (missense mutations in 6, nonsense mutations in 2, and frameshifting mutation in 1 case). PMID: 29419853
- Mutations in TSC1 gene on chromosome 9q34 that encode hamartin are associated with fetal Cardiac Rhabdomyoma that can be the initial finding in patients with Tuberous Sclerosis Complex. 5 known "pathogenic" TSC1-causing gene mutations were confirmed, also detected 6 "likely pathogenic" mutations. PMID: 29642139
- Patients with large deletions and frameshift mutations of the TSC1 or TSC2 gene showed larger AML diameters than patients with other kinds of mutations. PMID: 28065512
- Findings suggest that TSC1 mutations are frequent in mucosal melanoma. TSC1 mutations can activate the mTOR pathway through phospho-S6RP and might be a poor prognostic predictor of mucosal melanoma. PMID: 29185092
- We report the first case of a collision tumor composed of adenocarcinoma and melanoma with a TSC1 mutation that objectively and durably responded to mTOR inhibition. PMID: 28302097
- Mutations in MTOR, TSC1, or TSC2 were more common in patients who experienced clinical benefit from rapalogs than in those who progressed. PMID: 26831717
- The findings establish an active role for Tsc1 as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients-including Tsc2-thereby preventing their ubiquitination and proteasomal degradation. PMID: 29127155
- we found TSC1 gene to be involved in bilateral KC and TSC as well as with nonsyndromic KC, supporting the hypothesis that diverse germline mutations of the same gene can cause genetic disorders with overlapping clinical features. PMID: 29261847
- In our series, consistent with other studies, TSC2 mutations were associated with a more severe phenotypic spectrum than TSC1 mutations. This is the first study that sought to characterize the molecular spectrum of Brazilian individuals with tuberous sclerosis PMID: 28968464
- We report the case of a boy diagnosed with TSC at 2 years and 4 months of age, presenting with bilateral macrodactyly of the first three fingers of both hands, with underlying radiographic changes, in whom molecular analysis identified a frameshift mutation on the TSC1 gene (encoding hamartin), leading to a premature stop codon PMID: 27112935
- our findings suggest the significance of previously undocumented mutation-dependent mTOR hyperactivation and frequent TSC1/2 mutations in HBV-associated HCCs. They define a molecular subset of HCC having genetic aberrations in mTOR signalling, with potential significance of effective specific drug therapy. PMID: 27974549
- The mTOR-dependent, epithelial phenotype of TSC astrocytes suggests TSC1/2 and mTOR tune the phosphorylation level of catenin delta-1 by controlling PKCe activity, thereby regulating the mesenchymal-epithelial-transition (MET) PMID: 27516388
- We conditionally ablated the tuberous sclerosis complex 1 (Tsc1) gene, an mTOR inhibitor, in the rods of the Pde6b(H620Q/H620Q) preclinical RP mouse model and observed, functionally and morphologically, an improvement in the survival of rods and cones at early and late disease stages. PMID: 27516389
- TSC1 mutations leading to tuberous sclerosis in Chinese children. PMID: 27859028
- Our results indicate that TSC2 and less commonly TSC1 alterations are the primary essential driver event in angiomyolipoma/Lymphangioleiomyomatosis, whereas other somatic mutations are rare and likely do not contribute to tumor development. PMID: 27494029
- brain somatic mutations in TSC1 and TSC2 cause focal cortical dysplasia PMID: 28215400
- TSC1 expression is reduced in two subsets of clear-cell renal cell carcinomas, those with monoallelic VHL gene inactivation and those with concurrent low HIF-1alpha and high HIF-2alpha expression. PMID: 27845047
- Repression of TSC1/TSC2 mediated by MeCP2 regulates human embryo lung fibroblast cell differentiation and proliferation. PMID: 28041914
- TSC1 mutation is associated in patients, diagnosed with tuberous sclerosis associated vascular malformation. PMID: 27470532
- Novel TSC1 mutations in Chinese patients with tuberous sclerosis. PMID: 28178598
- Gene expression level of TSC1 is significantly higher in AD patients when compared to normal controls. PMID: 26943237
- Each TBC1D7 molecule interacts simultaneously with two parallel TSC1 helices from two TSC1 molecules, suggesting that TBC1D7 may stabilize the TSC complex by tethering the C-terminal ends of two TSC1 coiled-coils. PMID: 26893383
- IQ/DQ correlates inversely with predicted levels and/or deleterious biochemical effects of mutant TSC1 or TSC2 protein in tuberous sclerosis complex. PMID: 26408672
- AKT3 has a role in prostate cancer proliferation through regulation of Akt, B-Raf, and TSC1/TSC2 PMID: 26318033
- Tsc1 transgenic mice exhibit an age-dependent seizure pattern sequence mimicking early human tuberous sclerosis complex epilepsy. PMID: 26873267
- PAK2 is a direct effector of TSC1-TSC2-RHEB signaling and a new target for rational drug therapy in TSC. PMID: 26412398
- These findings indicate that Tsc1 prevents aberrant renal growth and tumorigenesis by inhibiting mTORC1 signaling, whereas phosphorylated rpS6 suppresses cystogenesis and fibrosis in Tsc1-deleted kidneys PMID: 26296742
- Data show that 10 pathogenic mutations were quickly identified, 7 were located in tuberous sclerosis 1 protein (TSC1) and 3 were observed in tuberous sclerosis 2 protein (TSC2). PMID: 26728384
- Tuberous sclerosis is a syndrome caused by dominant mutations in Hamartin (TSC1),causing Autism spectrum disorder - like behaviors, seizures, intellectual disability and characteristic brain and skin lesions. PMID: 26393489
- TSC1 and TSC2 mutations are associated with tuberous sclerosis. PMID: 27060308
- TSC-related tumors can increase the mutation detection rate, indicate that it is not likely that a third TSC gene exists, and enable provision of genetic counseling to the substantial population of TSC individuals who are currently NMI PMID: 26540169
- Data show that microRNA miR-451 target tuberous sclerosis 1 (TSC1) gene and activates the PI3-kinase/Akt protein/mTOR protein signaling in multiple myeloma (MM) Side population (SP) cells. PMID: 25915427
- 1st report of TSC1 R509X mutation in a Chinese family and a literature review of Chinese patients with tuberous sclerosis complex gene mutation reported since 2004. PMID: 25900779
- Letter/Case Report: response of metastatic renal call carcinoma with TCS1 mutation to mTOR inhibitors. PMID: 25796537
- Mutations of the TSC1 gene is associated with tuberous sclerosis complex with concomitant primary hyperparathyroidism due to parathyroid adenoma. PMID: 25889454
- PLK1 protein levels are increased in hamartin and tuberin deficient cells and Lymphangioleiomyomatosis patient-derived specimens, and that this increase is rapamycin-sensitive. PMID: 25565629
- These findings support a critical role for the Tsc1 gene as gatekeeper in the protection against uncontrolled cardiac growth. PMID: 25434723
- previously unidentified TSC1 and TSC2 mutations in tuberous sclerosis complex PMID: 25927202
- our findings indicate that miR-451 regulates cardiac hypertrophy and cardiac autophagy by targeting TSC1 PMID: 25209900
- Compared to patients with TSC1 mutations, individuals with TSC2 mutations had a significantly higher frequency of epilepsy and tended to have a higher frequency of infantile spasms. PMID: 25498131
- Findings indicate that neuronal Tsc1/2 complex activity is required for the coordinated regulation of autophagy by AMPK. PMID: 24599401
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相關疾病：Tuberous sclerosis 1 (TSC1); Lymphangioleiomyomatosis (LAM); Focal cortical dysplasia 2 (FCORD2)
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亞細胞定位：Cytoplasm. Membrane; Peripheral membrane protein.
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組織特異性：Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.
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