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POU4F3 Antibody

  • 货号：
    CSB-PA030135
  • 规格：
    ￥880
  • 其他：

产品详情

  • Uniprot No.：
    Q15319
  • 基因名：
    POU4F3
  • 别名：
    Brain specific homeobox/POU domain protein 3C antibody; Brain-3C antibody; Brain-specific homeobox/POU domain protein 3C antibody; BRN 3C antibody; Brn-3C antibody; BRN3C antibody; class 4 antibody; DFNA 15 antibody; DFNA15 antibody; MGC138412 antibody; PO4F3_HUMAN antibody; POU class 4 homeobox 3 antibody; POU domain antibody; POU domain class 4 transcription factor 3 antibody; POU4F3 antibody; transcription factor 3 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthesized peptide derived from the C-terminal region of Human Brn-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 1:5000
  • 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：
    Acts as a transcriptional activator. Acts by binding to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes. Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear.
  • 基因功能参考文献：
    1. POU4F3 c.602T>C (p.Leu201Pro) is related to midfrequency hearing loss. PMID: 29850532
    2. report the first nonsense mutation of POU4F3 associated with progressive hearing loss and explored the possible underlying mechanism PMID: 27999687
    3. DFNA52 were mapped between STR D5S2056 and D5S638 on chromosome, and analysis candidate genes in this region did not reveal any potentially pathogenic mutations segregating with congenital sensorineural hearing loss. PMID: 19138900
    4. Mutations in POU4F3 are a relatively common cause of autosomal dominant nonsyndromic hearing loss in Chinese Hans. PMID: 28053790
    5. Novel 12 POU4F3 likely pathogenic variants (six missense variants, three frameshift variants, and three nonsense variants) were successfully identified in 15 probands (2.5%) among 602 families exhibiting autosomal dominant hearing loss, whereas no variants were detected in the other 1,947 probands with autosomal recessive or inheritance pattern unknown hearing loss. PMID: 28545070
    6. results indicated GRHL2 might be a noise-induced hearing loss (NIHL) susceptibility gene, but the effect of POU4F3 on NIHL could only be detected when taking noise exposure into account and their effects were enhanced by higher levels of noise exposure PMID: 27271650
    7. this study identified a novel heterozygous mutation (c.602delT, p.L201fs) in the gene POU4F3 within a large hearing impaired Chinese family. PMID: 27535032
    8. The pou4f3 gene is regulated by ATOH1 and other transcription factors in cochlear hair cells. PMID: 25015561
    9. These data demonstrate that Nr2f2 is a direct target of POU4F3 in vitro and that this regulatory relationship may be relevant to hair cell development and survival. PMID: 25372459
    10. Data indicate that POUF4F3 deletion associated with hearing impairment. PMID: 24556497
    11. new variants in genes such as POU4F3 is associated with nonsyndromic deafness and vestibular dysfunction PMID: 24275721
    12. SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). PMID: 24260153
    13. This is the first report of a POU4F3 mutation in Asia, and moreover our data suggest that further investigation will need to delineate ethnicity-specific genetic background for autosomal dominant non-syndromic hearing loss within Asian populations. PMID: 20434433
    14. Molecular modelling is utilised to propose a mechanism of stability enhancement, via an interaction between the truncated POU(HD) domain and the POU(S) domain of the transcription factor. PMID: 20054994
    15. Proneural and proneuroendocrine transcription factor expression in cutaneous mechanoreceptor (Merkel) cells and Merkel cell carcinoma PMID: 12209986
    16. Mutant POU4F3 loses most of its transcriptional activity and most of its ability to bind to DNA. The mutation causes autosomal-dominant nonsyndromic hearing loss and eventually leads to hair cell morbidity in affected family H members. PMID: 14585957
    17. Data show that Brn-3c is capable of activating both BDNF and NT-3 promoters in inner ear sensory epithelial cell lines. PMID: 15465029
    18. our data show there are common sequence variants in the Brn-3c 5'-flanking region that affect transcriptional regulation in vitro PMID: 17611044
    19. Mutation analysis of the POU4F3 gene in 30 patients suffering from dominantly inherited hearing impairment revealed a second novel missense mutation (c.668T>C). PMID: 18228599
    20. report presents a detailed audiometric analysis of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in the POU4F3 gene PMID: 18347256
    21. extended subset of L289F POU4F3 mutation carriers varied from normal to areflexia in cochleovestibular disease PMID: 19372648
    22. Cochleovestibular characteristics were investigated in a Dutch DFNA15 family with a novel POU4F3 mutation, L223P. PMID: 19462854

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  • 相关疾病：
    Deafness, autosomal dominant, 15 (DFNA15)
  • 亚细胞定位：
    Nucleus. Cytoplasm.
  • 蛋白家族：
    POU transcription factor family, Class-4 subfamily
  • 组织特异性：
    Brain. Seems to be specific to the retina.
  • 数据库链接：

    HGNC: 9220

    OMIM: 602459

    KEGG: hsa:5459

    STRING: 9606.ENSP00000230732

    UniGene: Hs.553499