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  4. Recombinant Human Contactin-associated protein 1 (CNTNAP1), partial

Recombinant Human Contactin-associated protein 1 (CNTNAP1), partial

  • 中文名称：
    Recombinant Human Contactin-associated protein 1(CNTNAP1),partial
  • 货号：
    CSB-EP005692HU
  • 规格：
    ￥1344
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    CNTNAP1
  • Uniprot No.：
  • 别名：
    Caspr; Caspr1; CNTNAP; Cntnap1; CNTP1_HUMAN; Contactin associated protein 1; Contactin-associated protein 1; MHDNIV; NCP1; Neurexin 4; Neurexin IV; Neurexin-4; Nrxn4; p190; Paranodin
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 来源：
    E.coli
  • 分子量：
    53.8kDa
  • 表达区域：
    26-356aa
  • 氨基酸序列
    DEELVGPLYARSLGASSYYSLLTAPRFARLHGISGWSPRIGDPNPWLQIDLMKKHRIRAVATQGSFNSWDWVTRYMLLYGDRVDSWTPFYQRGHNSTFFGNVNESAVVRHDLHFHFTARYIRIVPLAWNPRGKIGLRLGLYGCPYKADILYFDGDDAISYRFPRGVSRSLWDVFAFSFKTEEKDGLLLHAEGAQGDYVTLELEGAHLLLHMSLGSSPIQPRPGHTTVSAGGVLNDQHWHYVRVDRFGRDVNFTLDGYVQRFILNGDFERLNLDTEMFIGGLVGAARKNLAYRHNFRGCIENVIFNRVNIADLAVRRHSRITFEGKVAFRCL
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 6xHis-SUMO-tagged
  • 产品提供形式：
    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.
  • 缓冲液：
    Tris-based buffer,50% glycerol
  • 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：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells.
  • 基因功能参考文献：
    1. E. coli exploits Caspr1 as a host receptor for penetration of the blood-brain barrier, resulting in meningitis PMID: 29895952
    2. In two brothers with severe congenital hypotonia and foot deformities, we identified compound heterozygous variants in CNTNAP1, reporting the first causative missense variant, p.(Cys323Arg). Motor nerve conductions were markedly decreased. PMID: 27782105
    3. CNTNAP1 mutations were found to induce characteristic ultrastructural lesions of the paranodal region. PMID: 27818385
    4. report a consanguineous Arab family from Qatar with three children having an early lethal form of arthrogryposis multiplex congenita and a novel frameshift mutation in CNTNAP1 PMID: 28254648
    5. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects PMID: 24319099

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  • 相关疾病：
    Lethal congenital contracture syndrome 7 (LCCS7)
  • 亚细胞定位：
    Membrane; Single-pass type I membrane protein. Cell junction, paranodal septate junction.
  • 蛋白家族：
    Neurexin family
  • 组织特异性：
    Predominantly expressed in brain. Weak expression detected in ovary, pancreas, colon, lung, heart, intestine and testis.
  • 数据库链接：

    HGNC: 8011

    OMIM: 602346

    KEGG: hsa:8506

    STRING: 9606.ENSP00000264638

    UniGene: Hs.408730