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Rabbit Anti-phospho-TSC1(Ser505)/BF647 Conjugated antibody (bs-5600R-BF647)
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說 明 書: 100ul  
100ul/2980.00元
大包裝/詢價
產品編號 bs-5600R-BF647
英文名稱 Rabbit Anti-phospho-TSC1(Ser505)/BF647 Conjugated antibody
中文名稱 BF647標記的磷酸化結節性硬化癥蛋白1抗體
別    名 TSC1(phospho S505); LAM; TSC1; Tuberous sclerosis 1 protein; TSC1_HUMAN; KIAA0243; TSC; Tuberous sclerosis 1.  
規格價格 100ul/2980元 購買        大包裝/詢價
說 明 書 100ul  
產品類型 磷酸化抗體 
研究領域 腫瘤  免疫學  染色質和核信號  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 Human, Mouse,  (predicted: Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, )
產品應用 IF=1:50-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 128kDa
性    狀 Lyophilized or Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated Synthesised phosphopeptide derived from human TSC1 around the phosphorylation site of Ser505 [FD(p-S)PF]
亞    型 IgG
純化方法 affinity purified by Protein A
儲 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存條件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
產品介紹 background:
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; Peripheral membrane protein. Note=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.

Database links:

Entrez Gene: 7248 Human

Entrez Gene: 64930 Mouse

Entrez Gene: 60445 Rat

Omim: 605284 Human

SwissProt: Q92574 Human

SwissProt: Q9EP53 Mouse

SwissProt: Q9Z136 Rat

Unigene: 370854 Human

Unigene: 224354 Mouse

Unigene: 205837 Rat



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

????結節性硬化癥為常染色體顯性遺傳,也常見散發病例。是腫瘤抑制基因,基因產物分別為Hamartin和tuberin,兩者均調節細胞生長。
????結節性硬化癥(tuberous sclerosis)又稱結節性腦硬化,Bourneville病。本病可歸類于神經皮膚綜合征(亦稱斑痣性錯構瘤病),是源于外胚層的器官發育異常所致,病變累及神經系統、皮膚和眼,也可累及中胚層,內胚層器官如心、肺、骨,腎和胃腸等。皮脂腺瘤是皮膚神經末梢、增生的結締組織和血管組成,視網膜可見膠質瘤、神經節細胞瘤,心、腎、肺、肝臟等也可發生腫瘤。
????而神經膠質增生性硬化結節廣泛發生于大腦皮質、白質、基底節和室管膜下,常伴鈣質沉積,可出現一位癥及血管增生等,出現癲癇發作及智能減退為特征。
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