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GJB3 Antibody

  • 货号：
    CSB-PA943355
  • 规格：
    ￥1100
  • 图片：
    • The image on the left is immunohistochemistry of paraffin-embedded Human liver cancer tissue using CSB-PA943355(GJB3 Antibody) at dilution 1/35, on the right is treated with synthetic peptide. (Original magnification: ×200)
    • Gel: 10%SDS-PAGE, Lysate: 40 μg, Lane: Mouse brain tissue, Primary antibody: CSB-PA943355(GJB3 Antibody) at dilution 1/700, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 10 seconds
  • 其他：

产品详情

  • Uniprot No.：
    O75712
  • 基因名：
    GJB3
  • 别名：
    GJB3; CX31; Gap junction beta-3 protein; Connexin-31; Cx31
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthetic peptide of Human GJB3
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen affinity purification
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    ELISA 1:1000-1:5000
    WB 1:500-1:2000
    IHC 1:25-1:100
  • 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. The results of this study showed that GJB3 mutants appear to account for a small proportion in double heterozygous state with autosomal recessive GJB2 mutation . PMID: 29926981
    2. GJB3 c.538C>T does not contribute to hearing loss, and this conclusion will assist with genetic counseling and risk prediction for deafness related to the GJB3 c.538C>T variant PMID: 29106878
    3. The results of the present study indicated that combined heterozygous mutations of the SLC264 and GJB3 genes may result in severe hearing loss. These results contribute to the understanding of clinical phenotype of deaf patients carrying combined mutations in the SLC26A4 and GJB3 genes. PMID: 27176802
    4. study suggests that Connexin-31 mutant proteins are un/misfolded to cause erythrokeratodermia variabilis likely via an AP-1-mediated mechanism and identifies a small molecule with therapeutic potential of the disease PMID: 26251042
    5. identified dominant pathogenic missense mutation in the M4 transmembrane domain of GJB3; mutation led to the erythrokeratodermia variabilis (EKV) phenotype in the patient's family; results, combined with literature review, suggest dominant missense mutations outside the E2 domain in GJB3 are associated with EKV, and those within the E2 domain cause ADNSHL PMID: 25556823
    6. The CX31 V174M mutant may have an effect on the formation and function of the gap junction, in nonsyndromic hearing loss. PMID: 24913888
    7. In this study, we found no mutations of GJB3 in two Progressive symmetrical erythrokeratoderma families. PMID: 23678955
    8. mutations prevalent in hearing loss patients PMID: 23638949
    9. We report a missense mutation p.G45E in the GJB3 gene, which was responsible for Erythrokeratodermia variabilis in a Chinese family. PMID: 22681493
    10. GJB3 and GJB6 genetic variants are associated with the pathogenicity of nonsyndromic sensorineural hearing loss. PMID: 22617145
    11. Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. PMID: 21950330
    12. Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death PMID: 22393412
    13. A neonatal hearing screening program in Campania, Italy did not find any incidence of GJB6 or GJB3 mutations. PMID: 21916817
    14. GJB3 gene mutations were not the main cause of hereditary nonsyndromic hearing loss in Uighur and Han people. PMID: 21055240
    15. There were no mutations found in the GJB3 gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown. PMID: 21198793
    16. endoplasmic reticulum stress leading to the unfolded protein response is the main mechanism of mutant Cx31-associated cell death. PMID: 19755382
    17. a homozygote mutation in the connexin 31 gene, found in a family that shows recessive inheritance of the disorder, thus providing the first molecular support for a recessive variant of erythrokeratodermia variabilis PMID: 12019212
    18. Connexin 31 mutation is associated with defective trafficking and cell death in skin disease PMID: 12165562
    19. Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells PMID: 12176042
    20. pathogenic mutations of CX31 are infrequent in sporadic non-syndromic hearing impairment PMID: 12630965
    21. effects of sequence variants G12D and R32W on Cx31 biogenesis and gap junction activity PMID: 12702148
    22. 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
    23. In summary, disease-associated Cx31 mutants impair the formation of normal gap junctions at different levels. PMID: 16077902
    24. Not all clincally diagnosed inviduals with erythrokeratoderma variabilis harbor Cx31 disease-associated mutations. PMID: 16297190
    25. provide an important first step in evaluating the pathogenesis of inherited human diseases associated with mutations in the gene for Cx31 PMID: 16549784

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  • 相关疾病：
    Erythrokeratodermia variabilis et progressiva 1 (EKVP1); Deafness, autosomal dominant, 2B (DFNA2B)
  • 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: 4285

    OMIM: 133200

    KEGG: hsa:2707

    STRING: 9606.ENSP00000362460

    UniGene: Hs.522561