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DFNA5 Antibody

  • 货号：
    CSB-PA004659
  • 规格：
    ￥880
  • 图片：
    • Western Blot analysis of 293 cells, rat stomach using DFNA5 Polyclonal Antibody
  • 其他：

产品详情

  • Uniprot No.：
    O60443
  • 基因名：
    GSDME
  • 别名：
    2310037D07Rik antibody; 4932441K13Rik antibody; Deafness, autosomal dominant 5 antibody; Deafness, autosomal dominant 5 protein antibody; DFNA5 antibody; DFNA5 gene antibody; DFNA5_HUMAN antibody; Dfna5h antibody; EG14210 antibody; Fin15 antibody; ICERE 1 antibody; ICERE-1 antibody; Inversely correlated with estrogen receptor expression 1 antibody; Non-syndromic hearing impairment protein 5 antibody; Nonsyndromic hearing impairment protein antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Rat
  • 免疫原：
    Synthesized peptide derived from the Internal region of Human DFNA5.
  • 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：
    Precursor of a pore-forming protein that converts non-inflammatory apoptosis to pyroptosis. This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-E, N-terminal) binds to membranes and forms pores, triggering pyroptosis.; Pore-forming protein produced by cleavage by CASP3 or granzyme B (GZMB), which converts non-inflammatory apoptosis to pyroptosis or promotes granzyme-mediated pyroptosis, respectively. After cleavage, moves to the plasma membrane, homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, triggering pyroptosis. Binds to inner leaflet lipids, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate. Cleavage by CASP3 switches CASP3-mediated apoptosis induced by TNF or danger signals, such as chemotherapy drugs, to pyroptosis. Mediates secondary necrosis downstream of the mitochondrial apoptotic pathway and CASP3 activation as well as in response to viral agents. Exhibits bactericidal activity. Cleavage by GZMB promotes tumor suppressor activity by triggering robust anti-tumor immunity. Suppresses tumors by mediating granzyme-mediated pyroptosis in target cells of natural killer (NK) cells: cleavage by granzyme B (GZMB), delivered to target cells from NK-cells, triggers pyroptosis of tumor cells and tumor suppression. May play a role in the p53/TP53-regulated cellular response to DNA damage.
  • 基因功能参考文献：
    1. DFNA5 variant is associated with tobacco- and HPV-mediated oral oncogenesis. PMID: 30091681
    2. DFNA5 methylation shows strong potential as a biomarker for detection of breast cancer. Slightly increased methylation in histologically normal breast tissue surrounding the tumor suggests that it may be a good early detection marker. PMID: 28404884
    3. In conclusion, our findings firstly revealed that GSDME switches chemotherapy drug-induced caspase-3 dependent apoptosis into pyroptosis in gastric cancer cells. PMID: 29183726
    4. findings suggest that caspase-3 activation can trigger necrosis by cleaving GSDME and offer new insights into cancer chemotherapy PMID: 28459430
    5. Genetic variations in the EYA4, GRHL2 and DFNA5 genes and their interactions with occupational noise exposure may play an important role in the incidence of noise-induced hearing loss (NIHL). PMID: 26400775
    6. Study identified a novel DFNA5 mutation IVS8+1 delG in a Chinese family which led to skipping of exon 8. This is the sixth DFNA5 mutation relates to hearing loss and the second one in DFNA5 intron 8. PMID: 26365971
    7. We identified a novel c.991-2A>G mutation in DFNA5 which again may lead to exon 8 skipping at the mRNA level. PMID: 24933359
    8. DFNA5 deletion mutation is associated with autosomal dominant hereditary hearing loss in Japanese families. PMID: 24506266
    9. DFNA5 protein expression in hepatocellular carcinoma cells was significantly lower than that in normal cells. PMID: 24154762
    10. DFNA5 is composed of two domains, separated by a hinge region. The first region induces apoptosis when transfected in HEK293T cells, the second region masks and probably regulates this apoptosis inducing capability PMID: 21522185
    11. A mutation in DFNA5 leads to a type of hearing loss that closely resembles the frequently observed age-related hearing impairment. PMID: 21805831
    12. A founder effect was demonstrated for the mutation of the DFNA5 gene casusing hearing loss in East Asians. PMID: 19911014
    13. no significant linkage between age-related hearing impairment (ARHI) and microsatellite markers from the DFNA5 region; there exists no strong association between DFNA5 and ARHI PMID: 12461698
    14. Here, we report another mutation in DFNA5, a CTT deletion in the polypyrimidine tract of intron 7. PMID: 14559215
    15. A novel DFNA5 mutation was found in a Dutch family, of which 37 members were examined. PMID: 14676472
    16. These results suggest that DFNA5 plays a role in the p53-regulated cellular response to genotoxic stress probably by cooperating with p53. PMID: 16897187
    17. description of a DFNA5 mutation: the insertion of a cytosine at nucleotide position 640 (AF073308.1:_c.640insC, AAC69324.1:_p. Thr215HisfsX8) which does not lead to hearing impairment PMID: 17427029
    18. GCs induce dfna5 mRNA and its expression appears to be repressed in the basal state. Induction of dfna5 mRNA correlates with GC-dependent apoptosis of CEM cells, though dfna5 expression alone is not sufficient for apoptosis. PMID: 17616391
    19. DFNA5-associated hearing loss is caused by a very specific gain-of-function mutation. PMID: 17868390
    20. DFNA5 is a novel tumor suppressor gene in CRC and a valuable molecular marker for human cancer PMID: 18223688
    21. These data implicate DFNA5 promoter methylation as a novel molecular biomarker in human breast cancer. PMID: 18346456

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  • 相关疾病：
    Deafness, autosomal dominant, 5 (DFNA5)
  • 亚细胞定位：
    [Gasdermin-E, N-terminal]: Cell membrane; Multi-pass membrane protein.; [Gasdermin-E]: Cytoplasm, cytosol.
  • 蛋白家族：
    Gasdermin family
  • 组织特异性：
    Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.
  • 数据库链接：

    HGNC: 2810

    OMIM: 600994

    KEGG: hsa:1687

    STRING: 9606.ENSP00000339587

    UniGene: Hs.520708