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  4. Recombinant Human Phakinin (BFSP2)

Recombinant Human Phakinin (BFSP2)

  • 货号：
    CSB-YP615697HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP615697HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP615697HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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：
  • 货号：
    CSB-BP615697HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP615697HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    BFSP2
  • Uniprot No.：
  • 别名：
    BFSP2Phakinin; 49 kDa cytoskeletal protein; Beaded filament structural protein 2; Lens fiber cell beaded filament protein CP 47; CP47; Lens fiber cell beaded filament protein CP 49; CP49; Lens intermediate filament-like light; LIFL-L
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-415
  • 氨基酸序列
    MSERRVVVDL PTSASSSMPL QRRRASFRGP RSSSSLESPP ASRTNAMSGL VRAPGVYVGT APSGCIGGLG ARVTRRALGI SSVFLQGLRS SGLATVPAPG LERDHGAVED LGGCLVEYMA KVHALEQVSQ ELETQLRMHL ESKATRSGNW GALRASWASS CQQVGEAVLE NARLMLQTET IQAGADDFKE RYENEQPFRK AAEEEINSLY KVIDEANLTK MDLESQIESL KEELGSLSRN YEEDVKLLHK QLAGCELEQM DAPIGTGLDD ILETIRIQWE RDVEKNRVEA GALLQAKQQA EVAHMSQTQE EKLAAALRVE LHNTSCQVQS LQAETESLRA LKRGLENTLH DAKHWHDMEL QNLGAVVGRL EAELREIRAE AEQQQQERAH LLARKCQLQK DVASYHALLD REESG
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 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：
    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 ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA. Plays a role in maintenance of retinal lens optical clarity.
  • 基因功能参考文献：
    1. The results suggest that the N-terminal domain of CRYAA is required during in vitro complex formation with filensin and phakinin. PMID: 28935373
    2. We report a novel mutation (p.G112E) in the BFSP2 gene, underscoring the physiological importance of the beaded filament protein and supporting its role in human cataract formation. PMID: 24654948
    3. Data show that BFSP2 and PITX3, hitherto known to cause eye defects only in a dominant fashion, can also present recessively. PMID: 21836522
    4. The Y-sutural opacity in the lens might be the typical and earliest sign for cataract caused by the BFSP2 mutation. In addition, a myopia susceptibility locus in this region, which might also be associated with the mutation in BFSP2. PMID: 15570218
    5. Progressive isolated sutural cataract associated with deletion mutation of BFSP2 gene in Chinese pedigree. Physiological importance of beaded filament protein. Role of BFSP2 in human cataract formation. PMID: 17200662
    6. Progressive phenotype has provided more evidence for the heterogeneity of congenital cataract caused by BFSP2 mutations and for the important role BFSP2 plays in cataract formation. PMID: 17982427
    7. This is the first reported case of a congenital lamellar cataract phenotype associated with the mutation of Arg339His (P.R339H) in BFSP2. PMID: 18958306

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  • 相关疾病：
    Cataract 12, multiple types (CTRCT12)
  • 亚细胞定位：
    Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.
  • 蛋白家族：
    Intermediate filament family
  • 组织特异性：
    Lens.
  • 数据库链接：

    HGNC: 1041

    OMIM: 603212

    KEGG: hsa:8419

    STRING: 9606.ENSP00000304987

    UniGene: Hs.659862