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  4. Recombinant Human Transmembrane protein 216 (TMEM216)

Recombinant Human Transmembrane protein 216 (TMEM216)

  • 中文名称：
    人TMEM216重组蛋白
  • 货号：
    CSB-CF023810HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    TMEM216
  • Uniprot No.：
  • 别名：
    TMEM216; HSPC244; Transmembrane protein 216
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-145
  • 氨基酸序列
    MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDV VMLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIM NGILLFFCGSELLLEVLTLAAFSRI
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-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：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 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：
    Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition.
  • 基因功能参考文献：
    1. study reports that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable ciliopathy, Joubert syndrome; expression of the genes is mediated by a conserved regulatory element in the noncoding intergenic region PMID: 22282472
    2. Data show that a single G218T mutation (R73L in the protein) was identified in all cases of Ashkenazi Jewish descent. PMID: 20512146
    3. a TMEM216 mutation may have a role in Joubert syndrome 2 (JBTS2) in Ashkenazi Jews PMID: 20036350
  • 相关疾病：
    Joubert syndrome 2 (JBTS2); Meckel syndrome 2 (MKS2)
  • 亚细胞定位：
    Membrane; Multi-pass membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
  • 数据库链接：

    HGNC: 25018

    OMIM: 603194

    KEGG: hsa:51259

    STRING: 9606.ENSP00000440638

    UniGene: Hs.26745