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  4. Recombinant Human Tubulin beta-4A chain (TUBB4A)

Recombinant Human Tubulin beta-4A chain (TUBB4A)

  • 中文名称：
    人TUBB4A重组蛋白
  • 货号：
    CSB-YP025324HU
  • 规格：
    ￥2208
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
  • Uniprot No.：
  • 别名：
    Beta 4; Beta 4 tubulin; beta 5; beta four tubulin; Dystonia 4 torsion (autosomal dominant); MC1R; TBB4_HUMAN; TUB B4; TUBB 4; tubb4; TUBB4A; TUBB5; Tubulin 5 beta; Tubulin beta 3; Tubulin beta 4; Tubulin beta 4 chain; Tubulin beta 4A class IVa; Tubulin beta 5; Tubulin beta IV; Tubulin beta-4 chain
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length
  • 来源：
    Yeast
  • 分子量：
    51.6kDa
  • 表达区域：
    1-444aa
  • 氨基酸序列
    MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEATGGNYVPRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDAVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEFPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLTVAAVFRGRMSMKEVDEQMLSVQSKNSSYFVEWIPNNVKTAVCDIPPRGLKMAATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEGEFEEEAEEEVA
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 6xHis-tagged
  • 产品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 缓冲液：
    Tris-based buffer,50% glycerol
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.
  • 基因功能参考文献：
    1. The data of this studies suggest that mutations in TUBB4A exceedingly rarely contribute to the etiology of isolated dystonia. PMID: 28655586
    2. The different clinical phenotypes associated with TUBB4A reflect the selective and specific cellular effects of the causative mutations. Cellular specificity of disease pathogenesis is relevant to developing targeted treatments for this disabling condition. PMID: 28973395
    3. Together, DYT4-associated TUBB4A mutants themselves form aberrant tubulin networks and inhibit neuronal process growth, possibly explaining progress through the pathological states at cellular levels. PMID: 29127012
    4. 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
    5. TUBB4A-mutated patients manifest a comparable clinical and neuroimaging picture but they can differ from each other in terms of rate of disease progression PMID: 26643067
    6. our data indicate that TUBB4A coding mutations do not play a critical role in the broad population of isolated dystonia patients PMID: 26318963
    7. a paclitaxel-resistant beta-tubulin isotype, betaIVa-tubulin, was the most up-regulated gene compared with other beta-tubulin isotypes in H460 floating cells, concomitant with elevated ERK activation PMID: 26375501
    8. The study adds complicated hereditary spastic paraplegia to the clinical spectrum of TUBB4A-associated neurological disorders. PMID: 25772097
    9. Data suggested H-ABC and DYT4 belong to a continuous phenotypic spectrum associated with TUBB4A mutations. PMID: 25545912
    10. Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). PMID: 24706558
    11. Novel TUBB4A mutations expands the phenotype of TUBB4A-related hypomyelinating conditions beyond hypomyelination with atrophy of the basal ganglia and cerebellum. PMID: 25085639
    12. This study demonistrated that Hypomyelination with atrophy of the basal ganglia and cerebellum with TUBB4A mutation. PMID: 24785942
    13. TUBB4A mutations cause typical hypomyelinating leukoencephalopathies. PMID: 24850488
    14. The c.4C>G DYT4 mutation appears to be private, and clinical testing for TUBB4A mutations is not justified in spasmodic dysphonia or other forms of primary dystonia PMID: 24598712
    15. This study demonistrated that TUBB4A mutation in the autoregulatory domain cause hereditary dystonia. PMID: 23424103
    16. This study provided strong evidence supporting the causative role of a mutation in TUBB4, altering a highly conserved and functionally important amino acid, in DYT4 dystonia. PMID: 23595291
    17. Data indicate that leucine-rich repeat kinase 2 (LRRK2) selectively interacts with three beta-tubulin isoforms: TUBB, TUBB4, and TUBB6. PMID: 24275654
    18. DYT4 is a familial form of dystonia unrelated to known dystonia genes and loci. Phenotypic expression is variable, ranging from isolated spasmodic dysphonia (often with mild craniocervical dystonia) to severe generalized dystonia. PMID: 21956287
    19. A de novo mutation in the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. PMID: 23582646
    20. Destruction of the beta-tubulin:CCT-beta complex provokes Hsp90-dependent protein ubiquitination and degradation. PMID: 23190606
    21. Data show six differentially expressed proteins were identified as HSP70, PPIA and alpha-Enolase (up-regulated) S100-A9, PIMT and beta-5 tubulin (down-regulated), most of which had been shown to play a potential role in the pathogenesis of atherosclerosis. PMID: 21839816
    22. The results provide the first evidence that a specific isoform of beta-tubulin is required for mitosis. PMID: 18553364
    23. Suggest that nuclear accumulation of soluble tubulin is part of an intrinsic defense mechanism, which tends to limit cell proliferation under pathological conditions. PMID: 19299461

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  • 相关疾病：
    Dystonia 4, torsion, autosomal dominant (DYT4); Leukodystrophy, hypomyelinating, 6 (HLD)
  • 亚细胞定位：
    Cytoplasm, cytoskeleton.
  • 蛋白家族：
    Tubulin family
  • 组织特异性：
    Major isotype in brain, where it represents 46% of all beta-tubulins. In the brain, highest expression levels in the cerebellum, followed by putamen and white matter. Moderate levels in testis. Very low levels, if any, in other tissues.
  • 数据库链接：

    HGNC: 20774

    OMIM: 128101

    KEGG: hsa:10382

    STRING: 9606.ENSP00000264071

    UniGene: Hs.110837