| 產(chǎn)品編號 | Ys-3837R |
| 英文名稱 | TSC1 |
| 中文名稱 | 結(jié)節(jié)性硬化癥蛋白1抗體 |
| 別 名 | LAM; Hamartin; Tuberous sclerosis 1 protein; TSC1_HUMAN; KIAA0243; TSC; Tuberous sclerosis 1. |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 交叉反應(yīng) | Human, (predicted: Mouse, Rat, Dog, Pig, Cow, Horse, ) |
| 產(chǎn)品應(yīng)用 | ELISA=1:5000-10000 not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 理論分子量 | 130 kDa |
| 細(xì)胞定位 | 細(xì)胞漿 細(xì)胞膜 |
| 性 狀 | Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human Hamartin: 131-230/1164 |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 緩 沖 液 | 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. |
| 保存條件 | Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. |
| 注意事項(xiàng) | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| PubMed | PubMed |
| 產(chǎn)品介紹 | Hamartin, or TSC1, is a suspected tumor suppressor implicated in the disease tuberous sclerosis 1. It is a negative regulator of cell division controlling the transition from G0/G1 to S phase, and it seems to act through the phosphatidylinositol 3 kinase/Akt pathway. TSC1 interacts with tuberin m(TSC2), which is thought to be a GAP (GTPase Activating Protein) for the Rap1 and Rab5 small G Proteins. The Hamartin/Tuberin complex has been shown to inhibit mTor. Hamartin has also been shown to interact with ERM (Ezrin-Radixin-Moesin) proteins and with F-actin, suggesting a role for TSC proteins in modulation of cell adhesion and morphology. Function: 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. Subunit: Interacts with TSC2, leading to stabilize TSC2. In the absence of TSC2, TSC1 self-aggregates. Interacts with DOCK7. Interacts with FBXW5 and TBC1D7. Subcellular Location: Cytoplasm. Membrane. At steady state found in association with membranes. Tissue Specificity: Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells. Post-translational modifications: Phosphorylation at Ser-505 does not affect interaction with TSC2. Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in TSC1 are the cause of tuberous sclerosis type 1 (TSC1) [MIM:191100]. It is an autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. TS1C 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. Defects in TSC1 may be a cause of focal cortical dysplasia of Taylor balloon cell type (FCDBC) [MIM:607341]. FCDBC is a subtype of cortical displasias linked to chronic intractable epilepsy. Cortical dysplasias display a broad spectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, and apoptosis of neuronal precursors and neurons during cortical development. SWISS: Q92574 Gene ID: 7248 結(jié)節(jié)性硬化癥為常染色體顯性遺傳，也常見散發(fā)病例。是腫瘤抑制基因，基因產(chǎn)物分別為Hamartin和tuberin，兩者均調(diào)節(jié)細(xì)胞生長。 結(jié)節(jié)性硬化癥(tuberous sclerosis)又稱結(jié)節(jié)性腦硬化，Bourneville病。本病可歸類于神經(jīng)皮膚綜合征(亦稱斑痣性錯(cuò)構(gòu)瘤病)，是源于外胚層的器官發(fā)育異常所致，病變累及神經(jīng)系統(tǒng)、皮膚和眼，也可累及中胚層，內(nèi)胚層器官如心、肺、骨，腎和胃腸等。皮脂腺瘤是皮膚神經(jīng)末梢、增生的結(jié)締組織和血管組成，視網(wǎng)膜可見膠質(zhì)瘤、神經(jīng)節(jié)細(xì)胞瘤，心、腎、肺、肝臟等也可發(fā)生腫瘤。 而神經(jīng)膠質(zhì)增生性硬化結(jié)節(jié)廣泛發(fā)生于大腦皮質(zhì)、白質(zhì)、基底節(jié)和室管膜下，常伴鈣質(zhì)沉積，可出現(xiàn)一位癥及血管增生等，出現(xiàn)癲癇發(fā)作及智能減退為特征。 |
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