Recombinant Human Tubulin beta-4A chain (TUBB4A)

^{In Stock}

中文名稱：

人TUBB4A重組蛋白
貨號：

CSB-EP025324HU
規格：

￥1836
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

TUBB4A
Uniprot No.：

P04350
別名：

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
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length
來源：

E.coli
分子量：

53.6kDa
表達區域：

1-444aa
氨基酸序列

MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEATGGNYVPRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDAVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEFPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLTVAAVFRGRMSMKEVDEQMLSVQSKNSSYFVEWIPNNVKTAVCDIPPRGLKMAATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEGEFEEEAEEEVA
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 6xHis-tagged
產品提供形式：

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.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

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.
貨期：

3-7 business days
注意事項：

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.

產品評價

靶點詳情

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.
基因功能參考文獻：
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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相關疾病：

Dystonia 4, torsion, autosomal dominant (DYT4); Leukodystrophy, hypomyelinating, 6 (HLD)
亞細胞定位：

Cytoplasm, cytoskeleton.
蛋白家族：

Tubulin family
組織特異性：

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.
數據庫鏈接：

HGNC: 20774

OMIM: 128101

KEGG: hsa:10382

STRING: 9606.ENSP00000264071

UniGene: Hs.110837