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  4. Recombinant Human Gap junction beta-3 protein (GJB3)

Recombinant Human Gap junction beta-3 protein (GJB3)

  • 货号：
    CSB-CF009453HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    GJB3
  • Uniprot No.：
  • 别名：
    GJB3; CX31; Gap junction beta-3 protein; Connexin-31; Cx31
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-270
  • 氨基酸序列
    MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGC TNVCYDNYFPISNIRLWALQLIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNA GKKHGGLWWTYLFSLIFKLIIEFLFLYLLHTLWHGFNMPRLVQCANVAPCPNIVDCYIAR PTEKKIFTYFMVGASAVCIVLTICELCYLICHRVLRGLHKDKPRGGCSPSSSASRASTCR CHHKLVEAGEVDPDPGNNKLQASAPNLTPI
    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. 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