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GJC3 Antibody

  • 货号：
    CSB-PA009509
  • 规格：
    ￥880
  • 其他：

产品详情

  • Uniprot No.：
    Q8NFK1
  • 基因名：
    GJC3
  • 别名：
    GJC3; GJE1; Gap junction gamma-3 protein; Connexin-30.2; Cx30.2; Connexin-31.3; Cx31.3; Gap junction epsilon-1 protein
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Synthesized peptide derived from the Internal region of Human Connexin 31.3.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    WB, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:2000
    ELISA 1:40000
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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