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  4. Recombinant Human Gap junction gamma-3 protein (GJC3)

Recombinant Human Gap junction gamma-3 protein (GJC3)

  • 货号：
    CSB-CF854118HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    GJC3
  • Uniprot No.：
  • 别名：
    GJC3; GJE1; Gap junction gamma-3 protein; Connexin-30.2; Cx30.2; Connexin-31.3; Cx31.3; Gap junction epsilon-1 protein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-279
  • 氨基酸序列
    MCGRFLRRLLAEESRRSTPVGRLLLPVLLGFRLVLLAASGPGVYGDEQSEFVCHTQQPGC KAACFDAFHPLSPLRFWVFQVILVAVPSALYMGFTLYHVIWHWELSGKGKEEETLIQGRE GNTDVPGAGSLRLLWAYVAQLGARLVLEGAALGLQYHLYGFQMPSSFACRREPCLGSITC NLSRPSEKTIFLKTMFGVSGFCLLFTFLELVLLGLGRWWRTWKHKSSSSKYFLTSESTRR HKKATDSLPVVETKEQFQEAVPGRSLAQEKQRPVGPRDA
    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：
    One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
  • 基因功能参考文献：
    1. Based on these findings, we suggest that p.W77S mutant has a dominant negative effect on the formation and function of the gap junction. These results give a novel molecular elucidation for the mutation of GJC3 in the development of hearing loss. PMID: 28367085
    2. Although p.R15G and p.L23H mutants do not decrease the trafficking of CX proteins, mutations in GJC3 genes result in a loss of hemichannel function of CX30.2/CX31.3 protein, possibly causing hearing loss. PMID: 23179405
    3. The connexin30.2/CX31.3 shares functional properties with pannexin (hemi) channels rather than gap junction channels of other Connexins. PMID: 21480002
    4. Mutations in the Cx29 gene do not play a role in the causation of non syndromic hearing impairment in Indian population. PMID: 20632892
    5. Observational study of gene-disease association. (HuGE Navigator) PMID: 20593197
    6. Observational study of gene-disease association. (HuGE Navigator) PMID: 20632892
    7. We suggest that the c.[43C-->G(+)230G-->C] compound heterozygous variant of Cx29 may be a risk factor for the development of hearing loss in Taiwanese. PMID: 19657183
    8. Data show that the p.E269D missense mutation resulted in accumulation of the Cx29 mutant protein in the endoplasmic reticulum rather than in the cytoplasmic membrane. PMID: 19876648
    9. Cx31.3 is localized to the gray matter along small myelinated fibers and is co-expressed with Cx32 in oligodendrocytes. PMID: 18353664

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  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
  • 蛋白家族：
    Connexin family, Gamma-type subfamily
  • 组织特异性：
    CNS specific. Expression is restricted to brain, spinal cord, and sciatic nerve. According to PubMed:12881038, expression is abundant in skeletal muscle, liver, and heart, and to a minor degree in pancreas and kidney.
  • 数据库链接：

    HGNC: 17495

    OMIM: 611925

    KEGG: hsa:349149

    STRING: 9606.ENSP00000325775

    UniGene: Hs.647524