Recombinant Human Spectrin beta chain, brain 2 (SPTBN2), partial

Code CSB-YP022636HU
MSDS
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Source Yeast
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Code CSB-EP022636HU
MSDS
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Source E.coli
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Code CSB-EP022636HU-B
MSDS
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP022636HU
MSDS
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Source Baculovirus
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Code CSB-MP022636HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
SPTBN2
Uniprot No.
Alternative Names
SPTBN2; KIAA0302; SCA5Spectrin beta chain; non-erythrocytic 2; Beta-III spectrin; Spinocerebellar ataxia 5 protein
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
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 before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
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℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and 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
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.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

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Target Background

Function
Probably plays an important role in neuronal membrane skeleton.
Gene References into Functions
  1. the proposed methodology is validated against betaII-spectrin protein, a brain injury validated biomarker PMID: 28112201
  2. SCA5 missense mutation found in the spinocerebellar ataxia type 5 perturbs a closed-open structural equilibrium in the SCA5-actin-binding domain by lowering the energetic barrier between structural states. PMID: 29116080
  3. Cardiac beta2-spectrin and downstream molecules are regulated in multiple forms of cardiovascular disease via Ca(2+)- and calpain-dependent proteolysis. PMID: 27106045
  4. This study indicates that high-affinity actin binding of L253P beta-III-spectrin is a likely driver of neurodegeneration. PMID: 26883385
  5. beta2-Spectrin, a TGF-beta mediator and signaling molecule, is cleaved and activated by caspase-3/7, consequently enhancing apoptosis and transcriptional control to determine cell fate upon liver damage. PMID: 26884715
  6. TGF-beta/beta2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome. PMID: 26784546
  7. investigated using either targeted next generation sequencing or trio-based exome sequencing and were found to have mutations in three different genes, KCNC3, ITPR1 and SPTBN2 PMID: 25981959
  8. First Japanese spinocerebellar ataxia type 5 (SCA5) family with a novel heterozygous three-nucleotide in-frame deletion mutation in the SPTBN2 gene. PMID: 25142508
  9. A homozygous SPTBN2 nonsense mutation underlying infantile ataxia and psychomotor delay in a human family. PMID: 23838597
  10. Mutant beta-III spectrin causes mislocalization and dysfunction of mGluR1alpha at dendritic spines. PMID: 25057192
  11. A novel missense mutation within a SPTBN2 spectrin repeat encoded by exon 12 was found in a family with spinocerebellar ataxia type 5. PMID: 22843192
  12. the identification of SPARCA1 and normal heterozygous carriers of the stop codon in SPTBN2 provides insights into the mechanism of molecular dominance in SCA5 and demonstrates that the cell-specific repertoire of spectrin subunits PMID: 23236289
  13. betaIII spectrin regulates the structural integrity and the secretory protein transport of the Golgi complex PMID: 23233669
  14. two gene markers (CNKSR3 and SPTBN2) differentiate between aspirin-exacerbated respiratory disease and aspirin-tolerant asthma with a perfect discriminative power PMID: 22457146
  15. This review summarizes data showing that beta-III spectrin mutations are a novel cause of neurodegenerative disease, which may affect the stabilization or trafficking of membrane proteins. PMID: 21827906
  16. TGF-beta signaling, particularly beta2SP, plays a critical role in hepatocyte proliferation and transitional phenotype. PMID: 20131405
  17. A mouse model lacking full-length beta-III spectrin reproduces features of human spinocerebellar ataxia type 5 including gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy. PMID: 20371805
  18. beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents and two additional families. PMID: 16429157
  19. None of the Spinocerebellar Ataxia individuals tested had evidence for one of the known SCA5 mutations. PMID: 17940722
  20. Adducin acting through spectrin provides a novel mechanism to regulate global properties of the lateral membrane of bronchial epithelial cells. PMID: 18003973
  21. the crystal structure of the ankyrin-binding domain of human beta2-spectrin at 1.95 A resolution together with mutagenesis data identifying the binding surface for ankyrins on beta2-spectrin. PMID: 19098307

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Involvement in disease
Spinocerebellar ataxia 5 (SCA5); Spinocerebellar ataxia, autosomal recessive, 14 (SCAR14)
Subcellular Location
Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.
Protein Families
Spectrin family
Tissue Specificity
Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta.
Database Links

HGNC: 11276

OMIM: 600224

KEGG: hsa:6712

STRING: 9606.ENSP00000311489

UniGene: Hs.26915

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