FITC标记的扭转蛋白A抗体
产品名称： FITC标记的扭转蛋白A抗体
英文名称： Anti-Torsin A/FITC
产品编号： HZ-11490R-FITC
产品价格： null
产品产地： 中国/上海
品牌商标： HZbscience
更新时间： 2023-08-17T10:24:20
使用范围： ICC=1:50-200 IF=1:50-200
上海沪震实业有限公司
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Rabbit Anti-Torsin A/FITC Conjugated antibod
FITC标记的扭转蛋白A抗体
| 产品编号 | bs-11490R-FITC |
| 英文名称 | Anti-Torsin A/FITC |
| 中文名称 | FITC标记的扭转蛋白A抗体 |
| 别 名 | DQ2; Dystonia 1; Dystonia 1 protein; Dyt1; Tor1a; Torsin A; Torsin family 1 member A; TOR1A_HUMAN. |
| 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 神经生物学 |
| 抗体来源 | Rabbit |
| 克隆类型 | Polyclonal |
| 交叉反应 | Human, Mouse, Rat, Dog, Pig, Cow, |
| 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 | 35kDa |
| 细胞定位 | 细胞膜 |
| 性 状 | Lyophilized or Liquid |
| 浓 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human Torsin A |
| 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: A mutation of the DYT1 gene, which codes for TorsinA, has been identified as the cause of one form of autosomal dominantly inherited dystonia. Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. TorsinA comprises 332 amino acids. TorsinA is widely expressed throughout the mouse central nervous system and is detected in the majority of neurons in nearly all regions. The proteins display cytoplasmic distribution, although in some types of neurons localization is perinuclear. TorsinA often performs chaperone-like functions that assist in the assembly, operation, or dis-assembly of protein complexes. The gene which encodes TorsinA has high homology to three additional mammalian genes and a nematode gene and distal similarity to the family of heat-shock proteins and the Clp protease family. The gene which encodes TorsinA maps to human chromosome 9q34. Function: May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins. In the nucleus, displaces the nuclear membrane proteins SUN2, SYNE2 and nesprin-3/C14orf49, leaving nuclear pores and SUN1 unchanged. Subunit: May form homohexamers. Interacts with TOR1AIP1 and TOR1AIP2. Interacts with KLHL14, preferentially when ATP-free. Subcellular Location: Endoplasmic reticulum lumen. Nucleus membrane. Note=Mainly located in the lumen of the endoplasmic reticulum. The association with nuclear envelope is mediated by the interaction with TOR1AIP2. The Glu-303 del variant is lumenally-oriented in discrete large spheroid intracellular structures rather than in the endoplasmic reticulum. Tissue Specificity: Widely expressed. Highest levels in kidney and liver. Not detected in spleen. In the brain, high levels found in the dopaminergic neurons of the substantia nigra pars compacta, as well as in the neocortex, hippocampus and cerebellum. Also high expression in the spinal cord. DISEASE: Defects in TOR1A are the cause of dystonia type 1 (DYT1) [MIM:128100]. DYT1 is a primary torsion dystonia, and the most common and severe form. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT1 is characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body, in the absence of other neurological symptoms. Typically, symptoms develop first in an arm or leg in middle to late childhood and progress in approximately 30% of patients to other body regions (generalized dystonia) within about five years. 'Torsion' refers to the twisting nature of body movements observed in DYT1, often affecting the trunk. Distribution and severity of symptoms vary widely between affected individuals, ranging from mild focal dystonia to severe generalized dystonia, even within families. Similarity: Belongs to the clpA/clpB family. Torsin subfamily. Database links: Entrez Gene: 1861 Human Entrez Gene: 30931 Mouse Entrez Gene: 266606 Rat Omim: 605204 Human SwissProt: O14656 Human SwissProt: Q9ER39 Mouse Unigene: 534312 Human Unigene: 154994 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications |
DYT1基因突变，其编码TorsinA，已被确定为一种常染色体显性遗传性肌张力障碍的原因。早发性扭转性肌张力障碍是一种运动障碍，以扭转肌肉挛缩为特征，始于儿童时期。症状被认为是由于基底神经节中的神经元通讯改变。Turina包括332个氨基酸。Turina在小鼠中枢神经系统中广泛表达，在几乎所有区域的大多数神经元中都检测到。蛋白质显示胞质分布，但在某些类型的神经元定位为核周。TorsinA经常执行伴侣样的功能，协助组装，操作，或DIS组装的蛋白质复合物。编码Turina的基因与三个额外的哺乳动物基因和线虫基因和热休克蛋白家族和CLP蛋白酶家族的亲缘相似性有很高的同源性。编码Turina的基因映射到人类染色体9q34。