Product Details

Purity

Greater than 90% as determined by SDS-PAGE.

Target Names

TUBB4A

Uniprot No.

P04350

Research Area

Signal Transduction

Alternative Names

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

Species

Homo sapiens (Human)

Source

E.coli

Expression Region

1-444aa

Target Protein Sequence

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.

Mol. Weight

53.6kDa

Protein Length

Full Length

Tag Info

N-terminal 6xHis-tagged

Form

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.

Buffer

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.

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

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

Shelf Life

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.

Lead Time

3-7 business days

Notes

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.

Description

The recombinant Human TUBB4A was expressed with the amino acid range of 1-444. The theoretical molecular weight of the TUBB4A protein is 53.6 kDa. This TUBB4A recombinant protein is manufactured in e.coli. The N-terminal 6xHis tag was smoothly integrated into the coding gene of TUBB4A, which enables a simple process of detecting and purifying the TUBB4A recombinant protein in the following steps.

Tubulin beta-4A chain (TUBB4A) is a member of the tubulin family, which constitutes the building blocks of microtubules – essential components of the cytoskeleton. Microtubules are involved in various cellular processes, including intracellular transport, cell division, and maintaining cell structure. TUBB4A is specifically associated with the assembly of microtubules and is expressed in various tissues, including the brain and other organs. Mutations in the TUBB4A gene have been linked to certain neurodevelopmental and neurodegenerative disorders, highlighting the importance of this protein in neurological function. Understanding the role of TUBB4A in microtubule dynamics and its implications for neuronal function is crucial for unraveling the molecular basis of these neurological conditions and may offer insights into potential therapeutic strategies.

Target Background

Function

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.

Gene References into Functions

The data of this studies suggest that mutations in TUBB4A exceedingly rarely contribute to the etiology of isolated dystonia. PMID: 28655586
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
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
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
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
our data indicate that TUBB4A coding mutations do not play a critical role in the broad population of isolated dystonia patients PMID: 26318963
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
The study adds complicated hereditary spastic paraplegia to the clinical spectrum of TUBB4A-associated neurological disorders. PMID: 25772097
Data suggested H-ABC and DYT4 belong to a continuous phenotypic spectrum associated with TUBB4A mutations. PMID: 25545912
Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). PMID: 24706558
Novel TUBB4A mutations expands the phenotype of TUBB4A-related hypomyelinating conditions beyond hypomyelination with atrophy of the basal ganglia and cerebellum. PMID: 25085639
This study demonistrated that Hypomyelination with atrophy of the basal ganglia and cerebellum with TUBB4A mutation. PMID: 24785942
TUBB4A mutations cause typical hypomyelinating leukoencephalopathies. PMID: 24850488
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
This study demonistrated that TUBB4A mutation in the autoregulatory domain cause hereditary dystonia. PMID: 23424103
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
Data indicate that leucine-rich repeat kinase 2 (LRRK2) selectively interacts with three beta-tubulin isoforms: TUBB, TUBB4, and TUBB6. PMID: 24275654
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
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
Destruction of the beta-tubulin:CCT-beta complex provokes Hsp90-dependent protein ubiquitination and degradation. PMID: 23190606
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
The results provide the first evidence that a specific isoform of beta-tubulin is required for mitosis. PMID: 18553364
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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Involvement in disease

Dystonia 4, torsion, autosomal dominant (DYT4); Leukodystrophy, hypomyelinating, 6 (HLD)

Subcellular Location

Cytoplasm, cytoskeleton.

Protein Families

Tubulin family

Tissue Specificity

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.

Database Links

HGNC: 20774

OMIM: 128101

KEGG: hsa:10382

STRING: 9606.ENSP00000264071

UniGene: Hs.110837

Code	CSB-EP025324HU
Abbreviation	Recombinant Human TUBB4A protein
MSDS	MSDS Datasheet
Size	US$306
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Image	(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Recombinant Human Tubulin beta-4A chain (TUBB4A)

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