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

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

  • 中文名稱：
    人SPTBN2重組蛋白
  • 貨號：
    CSB-YP022636HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人SPTBN2重組蛋白
  • 貨號：
    CSB-EP022636HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人SPTBN2重組蛋白
  • 貨號：
    CSB-EP022636HU-B
  • 規格：
  • 來源：
    E.coli
  • 共軛：
    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.

  • 其他：
  • 中文名稱：
    人SPTBN2重組蛋白
  • 貨號：
    CSB-BP022636HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人SPTBN2重組蛋白
  • 貨號：
    CSB-MP022636HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    SPTBN2
  • Uniprot No.：
  • 別名：
    SPTBN2; KIAA0302; SCA5Spectrin beta chain; non-erythrocytic 2; Beta-III spectrin; Spinocerebellar ataxia 5 protein
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    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.
  • 產品提供形式：
    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.
  • 復溶：
    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.
  • 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：
    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.
  • 注意事項：
    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.

產品評價

靶點詳情

  • 功能：
    Probably plays an important role in neuronal membrane skeleton.
  • 基因功能參考文獻：
    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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  • 相關疾病：
    Spinocerebellar ataxia 5 (SCA5); Spinocerebellar ataxia, autosomal recessive, 14 (SCAR14)
  • 亞細胞定位：
    Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.
  • 蛋白家族：
    Spectrin family
  • 組織特異性：
    Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta.
  • 數據庫鏈接：

    HGNC: 11276

    OMIM: 600224

    KEGG: hsa:6712

    STRING: 9606.ENSP00000311489

    UniGene: Hs.26915



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