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TOR1A Antibody

  • 货号：
    CSB-PA024067GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    O14656
  • 基因名：
  • 别名：
    DQ2 antibody; Dystonia 1 antibody; Dystonia 1 protein antibody; Dystonia 1 torsion antibody; Dyt1 antibody; TOR1A antibody; TOR1A_HUMAN antibody; Torsin 1A antibody; Torsin A antibody; Torsin family 1 member A antibody; Torsin family 1, member A (torsin A) antibody; Torsin-1A antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human TOR1A
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 功能：
    Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular trafficking and may regulate the subcellular location of multipass membrane proteins such as the dopamine transporter SLC6A3, leading to the modulation of dopamine neurotransmission. In the endoplasmic reticulum, plays a role in the quality control of protein folding by increasing clearance of misfolded proteins such as SGCE variants or holding them in an intermediate state for proper refolding. May have a redundant function with TOR1B in non-neural tissues.
  • 基因功能参考文献：
    1. TorsinA was post-transcriptionally upregulated upon acute ER stress, suggesting a role in this response. Increased basal phosphorylation of eIF2alpha in DYT1 transgenic rats was associated with abnormal response to acute ER stress. Unbiased RNA-Seq-based transcriptomic analysis of embryonic brain tissue in heterozygous and homozygous DYT1 knockin mice confirmed presence of eIF2alpha dysregulation in the DYT1 brain. PMID: 29289717
    2. Association between rs35153737 TOR1A variant and dystonia in a southwestern Chinese population. PMID: 28756192
    3. TOR1A exon 5 c.*302T>A is associated with isolated dystonia in southwestern Chinese. PMID: 28432771
    4. TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models PMID: 27168150
    5. This study does not allow the establishment of genotype-specific clinical correlations for DYT1 in patient with isolated dystonia. PMID: 27477622
    6. This study show both MDYT1 and without clinical symptoms showed an abnormally enhanced Abnormal blink reflex recovery curve compared with the healthy controls. Moreover, the lack of a statistical difference between manifesting and nonmanifesting carriers suggests that their brainstem circuits are equivalently affected by the DYT1. gene PMID: 27508977
    7. A comparison of these structures shows, in atomic detail, the subtle differences in TorsinADeltaE-LULL1 activator interactions that separate the healthy from the diseased state. PMID: 27490483
    8. found that human Torsin1A and human FMRP were present in the same protein complexes, suggesting that this phenomenon is evolutionarily conserved PMID: 27313903
    9. The significant association of rs1182 and rs1801968 TOR1A variants was found in the development of focal dystonia and writer's cramp respectively. PMID: 28081261
    10. This study demonstrated that whole-exome sequencing show reveled TOR1A mutation with early-onset generalized dystonia. PMID: 27666935
    11. This study showed that the Phosphodiesterase-10A Inverse Changes in Striatopallidal and Striatoentopeduncular Pathways of a Transgenic Mouse Model of DYT1 Dystonia. PMID: 28115486
    12. Genetic screening targeted at currently known disease-causing mutations in TOR1A, THAP1, and TUBB4 appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1. PMID: 27188707
    13. there might not be an association between TOR1A or THAP1 and patients with adult-onset primary focal dystonia PMID: 26803725
    14. This processing occurs not only in stress-exposed cell lines but also in primary cells from distinct organisms including stimulated B cells, indicating that Torsin conversion in response to physiologically relevant stimuli is an evolutionarily conserved process. PMID: 26953341
    15. Our patient and three other reported carriers of non-c.907_909delGAG-mutations within the first three exons of TOR1A showed similar phenotypes of adult-onset focal or segmental cervical dystonia PMID: 26297380
    16. Plasma salusin-alpha and salusin-beta levels are increased in endometrioma patients and positively correlated with endometrioma size. PMID: 26008602
    17. the common rs2296793 and rs3842225 SNPs of TOR1A do not play a major role in cervical dystonia in a Chinese population. PMID: 26704435
    18. Certain TOR1A genotypes may be regarded as factors predisposing to focal and segmental dystonia. PMID: 25203860
    19. DYT1 mutations are associated with dystonia disorders PMID: 26596547
    20. TorA(DeltaE) in Drosophila brains may activate the UPR and increase the expression of HSP22 to compensate for the toxic effects PMID: 25903460
    21. The results of this study indicate that a loss of function of torsinA during cerebellar synaptogenesis induces important developmental alterations. PMID: 26183317
    22. Salusin-beta but not saluin-alpha is able to promote inflammatory responses in human umbilical vein endothelial cells. PMID: 25210730
    23. This review summarizes the current state of knowledge regarding the potential functions of torsin 1A in the context of hypothetical pathomechanisms responsible for torsion dystonia type 1. PMID: 26281352
    24. study reports 2 new, putative TOR1A mutations (p.A14_P15del and p.E121K)in dystonia patients that were examined functionally compared with wild-type and 2 known mutations (DeltaE and p.R288Q); findings demonstrate functional changes for all 4 mutations on different levels PMID: 24931141
    25. Data show that mutation of arginine 563 in lamina-associated polypeptide 1 (LAP1) reduces its ability to stimulate TorsinA PMID: 25149450
    26. DYT1 is caused by mutations of the TOR1A gene, located on 9q34, which causes dysfunction of the D1 direct pathway or the indirect pathway[review] PMID: 25192508
    27. These findings provide functional evidence for the potential pathogenic nature of these rare sequence variants in the TOR1A gene, thus implicating these pathologies in the development of dystonia. PMID: 24930953
    28. LAP1 and LULL1 regulate Torsin ATPase activity through an active site complementation mechanism. PMID: 25352667
    29. This study demonistrated that Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia. PMID: 24862462
    30. analysis for TOR1-A mutations should be performed only in patients with early onset, generalized, and familial dystonia. PMID: 25337725
    31. Primary dystonia in the Amish-Mennonites is genetically diverse and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A GAG deletion. PMID: 24500857
    32. These results provide evidence for a regional specificity of the electrophysiological abnormalities observed and demonstrate the reproducibility of such alterations in distinct models of DYT1 dystonia. PMID: 24503369
    33. Data indicate that BiP (GRP78/Kar2) stabilizes torsinA and torsinADeltaE in mammalian cells. PMID: 24627482
    34. Current known dystonia genes include those related to dopamine metabolism, transcription factor, cytoskeleton, transport of glucose and sodium ion, etc. PMID: 23782819
    35. This study did not identify any significant association of 4 SNPs in the TOR1A gene in Dutch patients with torsion dystonia. PMID: 23460578
    36. The results of this study demonstrated a significantly higher frequency of H216 variant in PTD patients not carrying the DeltaGAG as compared with control subjects in Argentina. PMID: 23405979
    37. The results of this study suggested that genetic analysis for GAG deletion of DYT-1 gene may be performed even if dystonia starts at a very young age or it spreads to involve oromandibular muscles. PMID: 22770546
    38. In this study, we found that the rs1801968 variant of TOR1A was associated with early-onset primary dystonia . PMID: 23107556
    39. in dystonia DYT1 and DYT6 gene mutation carriers, diffusion tensor imaging detected fewer fibers in the cerebello-thalamo-cortical pathways PMID: 22987473
    40. No association of the rs1182 of TOR1A with Chinese primary dystonia was found. PMID: 23058565
    41. The DYT1 904-906 del GAG mutation is responsible for some of Iranian dystonia patients. PMID: 22487959
    42. variable clinical manifestation in different ethnic groups may suggest that ethnicity is a significant modifier of DYT1 dystonia PMID: 22622408
    43. In transgenic mice with DYT1 dystonia mutation stimulation of thalamostriatal axons triggered abnormal spiking activity in interneurons. PMID: 22933784
    44. The data of this study showed that the The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician's dystonia. PMID: 22226333
    45. The results of this study did not support the hypothesis that common TOR1A variants affect susceptibility for sporadic primary dystonia. PMID: 22172551
    46. This study do not confirm that the allele contributes to the risk of D216H SNP primary dystonia. PMID: 22054283
    47. The DYT1 carrier state increases energy demand in the olivocerebellar network. PMID: 21241782
    48. The s provide evidence that torsinA, a ubiquitously expressed ATPase, has a role in herpes simplex virus 1 nuclear egress. PMID: 21775450
    49. ER retention & membrane association are perturbed by a subset of nonconservative mutations to the N-terminal domain, suggesting that a helical structure with defined orientation in the membrane is required. PMID: 21785409
    50. Several genetic mutations have been identified that cause different forms of dystonia. [DYT1 gene -review article] PMID: 21636841

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  • 相关疾病：
    Dystonia 1, torsion, autosomal dominant (DYT1)
  • 亚细胞定位：
    Endoplasmic reticulum lumen. Nucleus membrane; Peripheral membrane protein. Cell projection, growth cone. Cytoplasmic vesicle membrane. Cytoplasmic vesicle, secretory vesicle. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Cytoplasm, cytoskeleton.
  • 蛋白家族：
    ClpA/ClpB family, Torsin subfamily
  • 组织特异性：
    Widely expressed. Highest levels in kidney and liver. 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 highly expressed in the spinal cord.
  • 数据库链接：

    HGNC: 3098

    OMIM: 128100

    KEGG: hsa:1861

    STRING: 9606.ENSP00000345719

    UniGene: Hs.534312