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HNF1A Antibody

  • 货号：
    CSB-PA944576
  • 规格：
    ￥1100
  • 图片：
    • Gel: 10%SDS-PAGE, Lysate: 40 μg, Lane: Mouse liver tissue, Primary antibody: CSB-PA944576(HNF1A Antibody) at dilution 1/400, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 45 seconds
  • 其他：

产品详情

  • Uniprot No.：
    P20823
  • 基因名：
  • 别名：
    Albumin proximal factor antibody; Hepatic nuclear factor 1 alpha antibody; Hepatic nuclear factor 1 antibody; Hepatic transcription factor 1 alpha antibody; Hepatic transcription factor 1 antibody; Hepatocyte nuclear factor 1-alpha antibody; HNF 1 antibody; HNF 1A antibody; HNF-1-alpha antibody; HNF-1A antibody; hnf1a antibody; HNF1A_HUMAN antibody; Interferon production regulator factor antibody; LF B1 antibody; LF B1 hepatic nuclear factor antibody; LFB 1 antibody; LFB1 antibody; LFB1 hepatic nuclear factor antibody; Liver specific transcription factor LF B1 antibody; Liver specific transcription factor LFB1 antibody; Liver-specific transcription factor LF-B1 antibody; Maturity onset diabetes of the young 3 antibody; MODY 3 antibody; MODY3 antibody; TCF 1 antibody; TCF-1 antibody; TCF1 antibody; Transcription factor 1 antibody; Transcription factor 1 hepatic antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Synthetic peptide of Human HNF1A
  • 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
  • 推荐稀释比：
    Application Recommended Dilution
    ELISA 1:2000-1:5000
    WB 1:500-1:2000
  • 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：
    Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Activates the transcription of CYP1A2, CYP2E1 and CYP3A11.
  • 基因功能参考文献：
    1. The results show that individuals with the HNF1A allele might achieve greater benefit with regard to weight loss and improvement of insulin resistance by choosing a hypocaloric and high-fat weight-loss diet than a low-fat diet. PMID: 29424957
    2. These findings show that HNF4A methylation status in the blood of children is associated with metabolic profiles. Therefore, we suggest that the DNA methylation status might serve as a potential epigenetic biomarkers of metabolic syndrome. PMID: 29598821
    3. Lower serum miR-122 is a unique feature of HNF1A-diabetes mellitus patients and might partially explain the increased risk for liver neoplasm and abnormal lipid metabolism in HNF1A-DM patients. PMID: 30155490
    4. genetic association studies in population of children in Japan: Data suggest that mutations in INS, HNF1A, HNF4A, and HNF1B likely play critical roles in children with insulin-requiring autoantibody-negative type 1 diabetes in the population studied. (INS = insulin; HNF1A = HNF1 homeobox A; HNF4A = hepatocyte nuclear factor 4 alpha; HNF1B = HNF1 homeobox B) PMID: 28597946
    5. Carriers of variant p.E508K in HNF1A have a reduced insulin response rather than the increased sensitivity to sulfonylureas seen in patients with MODY3. PMID: 29844095
    6. no association of rs7305618 or rs2393791 with polycystic ovary syndrome PMID: 29169850
    7. genetic association studies in populations in England and France: Data suggest that SNPs (27L allele) in HNF1A are associated with 1.6-year decrease in age at diagnosis of MODY, specifically in subset of individuals with PTV. (MODY = maturity-onset diabetes of the young; PTV = protein-truncating variant) [META-ANALYSIS] PMID: 29895593
    8. SNPs rs1169288 and rs2464196 of HNF1A gene were significantly associated with metabolic syndrome in a Morrocan population. PMID: 28712822
    9. The prevalence of maturity onset diabetes of the young due to HNF1A variants in Croatia has been determined. PMID: 29666556
    10. Germline HNF1A mutations were identified as the cause of autosomal dominant maturity-onset diabetes of the young type 3 (MODY3), a genetic type 2 diabetes occurring in young patients in a familial context. Liver Adenomatosis associated with MODY3 owing to a germline mutation of HNF1A. PMID: 28733222
    11. HNF1A mutations are associated with MODY 3 phenotype. PMID: 28395978
    12. Genetic variants in HNF1A gene had significantly decreased pancreas weight and insulin mass similar to that of type 1 diabetes. PMID: 28938416
    13. Twenty-five different variants were identified in GCK gene (30 probands-61% of positivity), and 7 variants in HNF1A (10 probands-17% of positivity). Fourteen of them were novel (12- GCK /2- HNF1A ). ACMG guidelines were able to classify a large portion of variants as pathogenic (36%- GCK /86%- HNF1A ) and likely pathogenic (44%- GCK /14%- HNF1A ), with 16% (5/32) as uncertain significance. PMID: 28170077
    14. HNF-1A plays a critical role in lipid and glucose homeostasis in second trimester of pregnancy PMID: 28591938
    15. The HNF1A variant p.Ala180Val does not seem to cause MODY3, although it may confer risk for type 2 diabetes mellitus. PMID: 28934671
    16. the contribution of the Maturity Onset Diabetes of the Young gene HNF1A in the etiology of 23 unrelated Tunisian families PMID: 29408271
    17. genetic association studies in population in Japan: Data suggest that HNF1A diplotype of three genetic risk variants (SNPs rs1169288-C, rs1183910-A, rs2464196-A) may be independent risk factor for development of diabetic retinopathy resulting from poor glycemic control in normal-weight patients with type 2 diabetes in the population studied. PMID: 27445006
    18. data suggested that the missense mutation of HNF1alpha (p.Q511L) may associate with the progression of hepatocellular carcinoma PMID: 29101032
    19. We confirmed that the SNPs in the HNF1A were associated with higher serum ApoA1 levels. Our results indicate that the polymorphic variability in the HNF1A locus may be a factor involving in the risk of CAD and IS. PMID: 28035729
    20. A SNP located in the HNF1A gene is associated with polycystic ovary syndrome (PCOS) among Han Chinese women. This suggested that variations in HNF1A might confer risk for PCOS PMID: 28299548
    21. Lef1 and Tcf1 showed oncogenic effect in colonic carcinogenesis. Cellular context of miRNAs might play important roles in carcinogenesis by altering the expression pattern of Lef/Tcfs members. PMID: 27433921
    22. HNF1alpha, which has previously been described as a modulator of several transporters of the renal transportosome, is also a key determinant of PDZK1 transcription. PMID: 28724612
    23. Results identified HNF1A/B as a good candidates to master the regulation of pancreatic differentiation, which at the protein level loses its expression in malignant ductal cells of the pancreas, suggesting its putative role as tumor suppressor in pancreatic cancer. PMID: 27520560
    24. this study found that 20%-60% of Hepatitis C-specific CD8+ T cells were Tcf1+ PMID: 27533016
    25. Findings suggest that there are subtypes of T2DM characterized by different urinary glucose excretion and cardiovascular risk factors. SLC5A2 and HNF1A mutations partially explain renal glycosuria in patients with T2DM. PMID: 28324025
    26. Results indicate that HNF1alpha can modulate the expression of hepatitis B virus (HBV) large surface proteins to interfere virion production, and HNF1alpha is capable of limiting HBV transcription and replication by activating the NF-kappaB signaling. PMID: 28319127
    27. Study have shown that expression of specific miRNAs depends on HNF1beta function. The impact of HNF1beta deficiency was evidenced at serum level, making HNF1beta-dependent miRNAs potentially applicable in the diagnosis of HNF1B-MODY. PMID: 27059371
    28. Mutation in HNF1A gene is associated with Maturity Onset Diabetes of the Young. PMID: 28095440
    29. CRP increased PCSK9 expression by activating p38MAPK-HNF1alpha pathway, with a certain downstream impairment in LDL metabolism in HepG2 cells. PMID: 27633999
    30. Our data on the first functional study of HNF1A mutations in South India subjects confers that the defect of the HNF-1A mutant proteins are responsible for MODY3 diabetes in these patients PMID: 26853433
    31. 11 variants that reduced HNF-1A transcriptional activity to <60% of normal (wild-type) activity was strongly associated with diabetes in the general population. PMID: 27899486
    32. The G allele of rs7953249 of HNF1A showed nominal association with small vessel disease subtype of ischemic stroke though not survived bonferroni correction for multiple comparisons. PMID: 27460564
    33. Mutation of HNF1A is associated with type 1B diabetes. PMID: 27398945
    34. TCF1 expression is regulated by SOX18 in prostate cancer. PMID: 27922675
    35. HNF1A mutations are associated with Maturity-Onset Diabetes of the Young. PMID: 27634015
    36. HNF1A gene polymorphisms (rs2259816 and rs7310409) showed statistically significant association with risk of coronary artery disease in Iranian patients. PMID: 28222501
    37. We show that SNPs in HNF1A (rs1169288 and rs2464196) are more frequent among dead opioid addicts than living opioid addicts. PMID: 27240623
    38. High TCF-1 expression is associated with dedifferentiated chondrosarcoma. PMID: 27522523
    39. co-expression of HNF4alpha and HNF1alpha is effective for cellular lipid accumulation, while additional factors are probably required for lipoprotein formation and secretion PMID: 27838959
    40. HNF1alpha plays a key role in the constitutive expression of megalin and cubilin, hence regulating endocytosis in the proximal tubule of the kidney. PMID: 27083284
    41. HNF1A mutations are associated with Maturity onset diabetes of youth. PMID: 26669242
    42. Mutations in HNF4A and HNF1A genes might account for this early-onset inherited type 2 diabetes. PMID: 26981542
    43. Letter/Case Report: HNF1A mutation in patient with MODY-3 and familial liver adenomatosis. PMID: 26646800
    44. Hepatocellular adenomas, specifically the HNF1-alpha subtype, can cause false-positive PET findings when seeking to identify malignancy. PMID: 26776850
    45. Plasma ghrelin level is higher in HNF1A-maturity onset diabetes of the young than in the common polygenic forms of diabetes. PMID: 25987348
    46. rejected the hypothesis that all human MODY-associated mutations in HNF1A / HNF4A induce changes in the pharmacokinetics of sulfonylureas in humans analogically to the Hnf1a(-/-) mouse model PMID: 26446475
    47. TCF-1 expression was lower in T cells from multiple sclerosis patients compared to healthy individuals. PMID: 26714756
    48. HNF-1alpha gene p379fsinsC mutation is described in a Chinese family with maturity-onset diabetes of the young type 3. PMID: 26436572
    49. Genetic screening detected a mutation p. Arg200Trp in the HNF1A gene in the patient, her mother, and maternal grandmother, suggesting a diagnosis of MODY-3 PMID: 24014008
    50. DR of any degree was not present in our GCK-MODY group, while in spite of young age almost every fourth subject with HNF1A-MODY showed signs of this complication. PMID: 26240958

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  • 相关疾病：
    Hepatic adenomas familial (HEPAF); Maturity-onset diabetes of the young 3 (MODY3); Diabetes mellitus, insulin-dependent, 20 (IDDM20)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    HNF1 homeobox family
  • 组织特异性：
    Liver.
  • 数据库链接：

    HGNC: 11621

    OMIM: 142330

    KEGG: hsa:6927

    STRING: 9606.ENSP00000257555

    UniGene: Hs.654455