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货号： bs-15406R-PE-Cy7 基本售价： 2980.0 元 规格： 100ul
产品信息
- 产品编号
- bs-15406R-PE-Cy7
- 英文名称
- Anti-Hamartin/PE-Cy7
- 中文名称
- PE-Cy7标记的错构素蛋白抗体
- 别 名
- Hamartin; kiaa0243; LAM; TSC; TSC1; Tsc1 gene; TSC1_HUMAN; Tuberous sclerosis 1; Tuberous sclerosis 1 protein.
- 规格价格
- 100ul/2980元购买 大包装/询价
- 说 明 书
- 100ul
- 研究领域
- 细胞生物 免疫学 染色质和核信号 新陈代谢 表观遗传学
- 抗体来源
- Rabbit
- 克隆类型
- Polyclonal
- 交叉反应
- Human, Mouse, Rat,
- 产品应用
- ICC=1:50-200 IF=1:50-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
- 分 子 量
- 130kDa
- 性 状
- Lyophilized or Liquid
- 浓 度
- 1mg/ml
- 免 疫 原
- KLH conjugated synthetic peptide derived from human Hamartin
- 亚 型
- IgG
- 纯化方法
- affinity purified by Protein A
- 储 存 液
- 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
- 保存条件
- 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.
- 产品介绍
- background:
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mental retardation and the widespread development of distinctive tumors termed hamartomas. Two different genetic loci have been linked to TSC; one of these loci, the tuberous sclerosis-2 gene (TSC2), encodes a protein called tuberin and the other loci, tuberous sclerosis-1 gene (TSC1), encodes a protein called hamartin. Tuberin and hamartin interact with each other forming a cystoplasmic complex. Hamartin interacts with the ezrin-radixin-moesin (ERM) family of actin-binding proteins and inhibition of hamartin activity results in loss of cell adhesion. Hamartin is present in most adult tissues with strong expression in brain, heart, and kidney.
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.
DISEASE:
Tuberous sclerosis 1 (TSC1) [MIM:191100]: An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It 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 manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes. Note=The disease is caused by mutations affecting the gene represented in this entry.
Focal cortical dysplasia of Taylor balloon cell type (FCDBC) [MIM:607341]: 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. Note=The disease may be caused by mutations affecting the gene represented in this entry.
Database links:Entrez Gene: 7248Human
Entrez Gene: 64930Mouse
Entrez Gene: 60445Rat
Omim: 605284Human
SwissProt: Q92574Human
SwissProt: Q9EP53Mouse
SwissProt: Q9Z136Rat
Unigene: 370854Human
Unigene: 224354Mouse
Unigene: 205837Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.