Your Good Partner in Biology Research

  1. Home
  2. 抗体
  3. 多克隆抗体
  4. GJB4 Antibody

GJB4 Antibody

  • 货号：
    CSB-PA865136LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) GJB4 Polyclonal antibody
  • Uniprot No.：
    Q9NTQ9
  • 基因名：
    GJB4
  • 别名：
    GJB4; Gap junction beta-4 protein; Connexin-30.3; Cx30.3
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Gap junction beta-4 protein (211-266AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，GJB4 Antibody (CSB-PA865136LA01HU)，的标记方式是Non-conjugated。对于GJB4 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA865136LB01HU GJB4 Antibody, HRP conjugated ELISA
    FITC CSB-PA865136LC01HU GJB4 Antibody, FITC conjugated
    Biotin CSB-PA865136LD01HU GJB4 Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA
  • 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：
    Structural component of gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore.
  • 基因功能参考文献：
    1. GJB4 may be a genetic risk factor for the development of nonsyndromic hearing loss and the data from the present study can be used to direct the clinical evaluation and effectively manage the care of families of children with GJB4. PMID: 25333454
    2. In this study, we found no mutations of GJB4 in two Progressive symmetrical erythrokeratoderma families. PMID: 23678955
    3. Letter: describe erythrokeratodermia variabilis phenotype related to novel mutation in GJB4 gene. PMID: 23037955
    4. Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. PMID: 21950330
    5. Bidirectional sequencing of the coding region of GJB4 revealed a novel c.295G>A missense mutation. PMID: 22266302
    6. There were no mutations found in the GJB4 gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown. PMID: 21198793
    7. A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families PMID: 11933201
    8. the involvement of connexin gene 30.3 (GJB4) in the etiology of erythrokeratodermia variabilis PMID: 12648223
    9. These results not only provide new insights into epidermal connexin synthesis and polymerization, but also allow a novel molecular explanation for the similarity of EKV phenotypes. PMID: 14583444
    10. Not all clinically diagnosed individuals with erythrokeratoderma variabilis harbor Cx30.3 disease-associated mutations. PMID: 16297190
    11. Five patients with erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron had the same mutation in the GJB4 gene causing the amino acid substitution p.Gly12Asp (G12D). PMID: 19291775

    显示更多

    收起更多

  • 相关疾病：
    Erythrokeratodermia variabilis et progressiva 2 (EKVP2)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
  • 蛋白家族：
    Connexin family, Beta-type (group I) subfamily
  • 数据库链接：

    HGNC: 4286

    OMIM: 605425

    KEGG: hsa:127534

    STRING: 9606.ENSP00000345868

    UniGene: Hs.351203