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PAX4 Antibody

  • 货号：
    CSB-PA017490GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    O43316
  • 基因名：
    PAX4
  • 别名：
    KPD antibody; MGC129960 antibody; MODY9 antibody; Paired box 4 antibody; Paired box gene 4 antibody; paired box homeotic gene 4 antibody; Paired box protein Pax-4 antibody; Paired domain gene 4 antibody; Pax4 antibody; PAX4_HUMAN antibody
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human PAX4
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20oC, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IF
  • 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：
    Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity.
  • 基因功能参考文献：
    1. genetic association studies in population in Republic of Korea: Data suggest that SNPs in PAX4 and GLP1R are associated with type 2 diabetes (T2D) in the population studied. In genome-wide associations, PAX4 Arg192His increased risk of T2D; GLP1R Arg131Gln decreased risk of T2D. (PAX4 = paired box 4 protein; GLP1R = glucagon-like peptide 1 receptor) PMID: 29941447
    2. The rs10229583 polymorphism near PAX4 is associated with gestational diabetes mellitus in Chinese women. PMID: 28730907
    3. Study identified the association of a PAX4 Asian-specific missense variant rs2233580 with type 2 diabetes in an exome-chip association analysis, supporting the involvement of PAX4 in the pathogenesis of type 2 diabetes. PMID: 27744525
    4. Viability of beta-cell was reduced under glucotoxic stress condition for the cells overexpressing either PAX4 R192H or PAX4 P321H or both. Thus these PAX4 polymorphisms may increase T2D risk by defective transcription regulation of target genes and/or decreased beta-cell survival in high glucose condition. PMID: 27334367
    5. PAX4 IVS7-1G>A contributes to the pathogenesis of diabetes in this maturity-onset diabetes of the young, type 9 family through beta-cell dysfunction PMID: 25951767
    6. The PAX4 variant rs6467136 was associated with the therapeutic effect of rosiglitazone in Chinese T2DM patients. PMID: 24752311
    7. PAX4-miR-144/451-ADAMs axis regulates human epithelial cancer metastasis PMID: 25151965
    8. These data suggest that acute PAX4 overexpression can reduce expression of aristaless related homeobox and glucagon during embryonic stem cell differentiation resulting in improved numbers of unihormonal insulin-positive cells. PMID: 25483960
    9. Tph1 and increased EC cell number occurred before the onset of obesity and hyperleptinemi. In addition, leptin deficiency was associated with reduced Pax4 mRNA, oral leptin treatment enhanced both Tph1 and Pax4 mRNA. PMID: 24468700
    10. MAFA nuclear expression in pancreatic alpha and beta cells, and the percentage of alpha cells expressing PAX4 are altered in patients with type 2 diabetes. PMID: 24013263
    11. PAX4 R192H polymorphism generated a protein with defect in transcriptional repressor activities on its target genes, which may lead to beta-cell dysfunction associated with maturity onset diabetes of the young and early onset-age of type 2 diabetes. PMID: 22521316
    12. A1168C polymorphism in PAX4 gene may not play an essential role in the genetic susceptibility of the islet autoantibody-negative ketosis-prone diabetes in Chinese Han population. PMID: 20360641
    13. A novel mutation of PAX4 is likely to be associated with diabetes in this Japanese family. PMID: 21263211
    14. study did not detect causal mutations in the PAX4 gene in a large group of Czech MODYX probands, which may suggest-together with data from other European populations- MODY in Caucasians could only very rarely, if ever, be attributed to PAX4 mutations PMID: 21059099
    15. PAX4 R192H mutation (rs2233580) was significantly associated with impaired glucose tolerance in childhood acute lymphoblastic leukemia. PMID: 20485196
    16. The A1168C single nucleotide polymorphism in PAX4 gene may not play an essential role in genetic T1DM susceptibility in Chinese Han population PMID: 17633464
    17. Sixteen single-nucleotide polymorphisms(SNPs) were evaluated for IRS1 and 10 for PAX4. Transmission disequilibrium testing neither show type I diabetes association of SNPs in the two genes, nor did haplotype analysis. PMID: 19956100
    18. Four genes, PCSK1, (P=0.008), EGFR,(P=0.003), PAX4,(P=0.008), and LYN,(P=0.002) consistently yielded statistical evidence for association with longevity. PMID: 19641380
    19. Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factor Pax4. PMID: 12200761
    20. The R121W mutation in PAX4 is a predisposing factor for the development of type 2 diabetes in Okinawans. PMID: 12604352
    21. The expression of this gene is regulated by REST protein. PMID: 12829700
    22. Located at 7q32 and participates downstream of ISL1 in the transcription factor cascade critical to beta-cell development. Association with type 1 diabetes was also observed using the transmission disequilibrium test for two haplotypes at the PAX4 locus. PMID: 15161765
    23. The mechanism by which the beta-cell transcription factor Pax4 influences cell function/mass was studied in human islets of Langerhans. PMID: 15596543
    24. Pax4 is an essential regulator of pancreatic beta-cell development [review] PMID: 15650323
    25. C/C genotype of the A1168C polymorphism in PAX4 can be viewed as a predisposition marker that can help to detect individuals prone to develop type 1 diabetes. PMID: 15834548
    26. A predisposition marker for susceptibility for type 1 diabetes. PMID: 15838687
    27. The data indicate that the +1,168 C/A variant of PAX4 gene does not play any essential role in genetic type 1 diabetes susceptibility. PMID: 16123375
    28. The Arg121Trp variant in the PAX4 gene is associated with beta cell dysfunction in Japanese subjects with type 2 diabetes. mellitus. PMID: 16423628
    29. activin A enhances PAX4 expression by enhanced transactivation of E47/E12 proteins and might result in a cumulative transactivation of the promoter PMID: 16546275
    30. Forced expression of the PAX4 gene in the HEK293 and SHSY/610 cell lines conferred positive effects on cell growth. This profile of PAX4 thus corresponds to that of a candidate oncogene in hematologic malignancies. PMID: 16701883
    31. two possible pathogenic mutations of PAX4, R164W, and IVS7-1G>A; for one, we have shown evidence of segregation with diabetes and a functional impact on PAX4 activity and polymorphism R192H might influence the age at onset of diabetes PMID: 17426099
    32. Pax4 protein transduction could be a safe and valuable strategy for protecting islet cell growth in culture from apoptosis and promoting islet cell differentiation. PMID: 17717051
    33. pax4 gene expression is epigenetically regulated and induced by physiological stimuli through the concerted action of multiple signalling pathways. PMID: 17989064
    34. Constitutive expression of Pax4 in HESC substantially enhances their propensity to form putative beta-cells. Our findings provide a novel foundation to study the mechanism of pancreatic beta-cells differentiation during early human development PMID: 18335054
    35. PAX4 has the potential to function as a tumor suppressor in human melanoma. PMID: 18949370

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  • 相关疾病：
    Diabetes mellitus, non-insulin-dependent (NIDDM); Diabetes mellitus, insulin-dependent (IDDM); Diabetes mellitus, ketosis-prone (KPD); Maturity-onset diabetes of the young 9 (MODY9)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    Paired homeobox family
  • 数据库链接：

    HGNC: 8618

    OMIM: 125853

    KEGG: hsa:5078

    UniGene: Hs.129706