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SCNN1B Antibody

  • 货号：
    CSB-PA020849LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Western Blot
      Positive WB detected in: PC-3 whole cell lysate
      All lanes: SCNN1B antibody at 8µg/ml
      Secondary
      Goat polyclonal to rabbit IgG at 1/50000 dilution
      Predicted band size: 73, 78 kDa
      Observed band size: 73 kDa
    • IHC image of CSB-PA020849LA01HU diluted at 1:300 and staining in paraffin-embedded human liver cancer performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
    • IHC image of CSB-PA020849LA01HU diluted at 1:300 and staining in paraffin-embedded human bladder cancer performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
    • Immunofluorescence staining of HepG2 cells with CSB-PA020849LA01HU at 1:100, counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L).
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) SCNN1B Polyclonal antibody
  • Uniprot No.：
    P51168
  • 基因名：
    SCNN1B
  • 别名：
    Amiloride sensitive sodium channel subunit beta antibody; Amiloride-sensitive sodium channel subunit beta antibody; Beta NaCH antibody; Beta-ENaC antibody; Beta-NaCH antibody; ENaC beta antibody; ENaCB antibody; Epithelial Na(+) channel subunit beta antibody; Epithelial Na+ channel beta subunit antibody; Epithelial Na+ channel subunit beta antibody; Epithelial sodium channel beta 2 subunit antibody; Epithelial sodium channel beta 3 subunit antibody; Nonvoltage gated sodium channel 1 beta subunit antibody; Nonvoltage gated sodium channel 1 subunit beta antibody; Nonvoltage-gated sodium channel 1 subunit beta antibody; SCNEB antibody; SCNN 1B antibody; SCNN1B antibody; SCNNB_HUMAN antibody; Sodium channel nonvoltage gated 1 beta (Liddle syndrome) antibody; Sodium channel nonvoltage gated 1 beta antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Amiloride-sensitive sodium channel subunit beta protein (554-640AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，SCNN1B Antibody (CSB-PA020849LA01HU)，的标记方式是Non-conjugated。对于SCNN1B Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA020849LB01HU SCNN1B Antibody, HRP conjugated ELISA
    FITC CSB-PA020849LC01HU SCNN1B Antibody, FITC conjugated
    Biotin CSB-PA020849LD01HU SCNN1B Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, WB, IHC, IF
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:5000
    IHC 1:200-1:500
    IF 1:50-1:200
  • 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：
    Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.
  • 基因功能参考文献：
    1. No association was found between single nucleotide polymorphism rs12447134 of sodium channel, nonvoltage-gated 1, beta protein (SCNN1B) gene with the onset of disease hypertension. PMID: 29419876
    2. The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations PMID: 28708422
    3. hENaC incorporating the Liddle-mutated beta-subunit lacks one or more PKC phosphorylation sites, thereby significantly reducing the inhibitory effect of PKC on Na(+) channel activity, whereas hENaC incorporating Liddle-mutated gamma-subunits remains as susceptible to PKC as wild-type hENaC. PMID: 26759146
    4. deltabetagamma-ENaC is inhibited by CFTR but activated by cyclic AMP. PMID: 27941075
    5. Results identify SCNN1B as a tumor-suppressive function that triggers UPR in gastric cancer cells, with implications for its potential clinical applications as a survival biomarker in gastric cancer patients. PMID: 28202509
    6. These results indicated a significant association between EH and SCNN1B methylation, which was affected by age, gender and antihypertensive therapy. PMID: 27840946
    7. Three nonsynonymous amino acid variants in SCNN1B in nonwhite Cystic fibrosis patients with non-diagnostic CFTR genotypes was PMID: 25900089
    8. These results do not suggest an important role for the T594M variant of the ENaC gene contributing to either the development or severity of hypertension in subjects of Indo-Aryan ancestry. PMID: 25173196
    9. causative mutation for Liddle's syndrome (LS) in this patient was identified to be a novel frameshift mutation. DNA sequencing resulted in exon 13 of SCNN1B gene: SCNN1B NM_000336.2:c.1 724_1730dupGGCCCAC [p.Pro5 75Argfs*17]. PMID: 26638596
    10. analysis of a novel frameshift mutation in the betaENaC gene in an isolated case of Liddle syndrome PMID: 25378078
    11. Suggest that SCNN1B gene has important roles in blood pressure regulation in the Han Chinese population. PMID: 25231509
    12. significant association between the rs3743966 SNP in intron 12 of epithelial sodium channel beta-subunit and essential hypertension PMID: 24888492
    13. Suggest that beta-ENaC mediates cytotrophoblast migration and increasing beta-ENaC expression by HO-1 induction enhances migration. PMID: 24553299
    14. ENaCbeta but not ENaCalpha expression is significantly lower in severe preeclampsia compared with normal pregnancy. PMID: 23977235
    15. The R563Q SCNN1beta variant is strongly associated with hypertension in urban areas in South Africa. PMID: 22895453
    16. study reports an adolescent with Liddle syndrome caused by a novel missense mutation, P614L, in the PY motif of the ENaC beta subunit. This missense mutation was found in 6 members of the adolescent's family as well PMID: 22809657
    17. analysis of eight extracellular domain residues in human beta- and gammaENaC that are required for regulation by acidic pH PMID: 23060445
    18. these data suggests that miR-16 upregulates ENaC, a major sodium channel involved in resolution of pulmonary edema in acute lung injury. PMID: 22940131
    19. Family study of hypertension caused by Liddle syndrome revealed a heterozygous mutation c.C1852T (p.Pro618Ser) in the SCNN1B gene. PMID: 21956615
    20. Breathing pattern is progressively altered in betaENaC-transgenic mice, likely reflecting airflow limitation due to airway mucus obstruction. PMID: 21700000
    21. variants of ENaC subunits A,B,G may contribute to the variation of BP response to dietary sodium intake PMID: 21562341
    22. The R563Q mutation of beta-ENaC is associated with hypertension within affected kindreds, but does not usually cause the full Liddle's syndrome phenotype. PMID: 21107496
    23. a SNP in SCNN1B was significantly associated with lower systolic and diastolic blood pressure in physically active Chinese. PMID: 21654856
    24. heterozygous C to T mutation at codon 617 in exon 13 of SCNN1B in the proband and in all of the members of the maternal lineage submitted to genetic analysis PMID: 21525970
    25. Characterization of the epithelial sodium channel delta-subunit in human nasal epithelium. PMID: 19520916
    26. Genotypes of the betaENaC gene have little influence on blood pressure level in the Japanese population. PMID: 11863256
    27. cloned and characterized the 5' end of the human beta-ENaC gene and identified alternate promoters that determine basal expression of separate transcripts PMID: 11934701
    28. Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel beta-subunit gene. PMID: 12107247
    29. homozygous mutation in the promoter region of betaENaC leads to pseudohypoaldosteronism type I, the first description of a mutation in the regulatory regions of an ENaC subunit leading to a clinical phenotype PMID: 12204893
    30. Frameshift mutation of beta subunit caused by single cytosine insertion at codon 595, introducing new stop codon at 605 and deleting last 34 amino acids from normally encoded protein. PMID: 12473861
    31. R563Q, a new variant of the beta epithelial sodium channel, is associated with low-renin, low-aldosterone hypertension. Only a minority of individuals with the R563Q allelle fully express the Liddle's syndrome phenotype. PMID: 12714866
    32. No support for an important role for the T594M variant of the ENaC gene contributing to either the development or severity of hypertension in subjects of African ancestry. PMID: 14553964
    33. in ulcerative colitis, elevated proinflammatory cytokines selectively impair beta- and gamma-ENaC expression, which contributes to diarrhea by reducing colonic sodium absorption. PMID: 15188166
    34. The roles of these missense mutations in the SCNN1B or SCNN1G gene identified in hypertensive patients are not clear in the pathogenesis of hypertension and the regulation of electrolytes. PMID: 15198480
    35. Common variants of the ENaC beta subunit confer susceptibility to human essential hypertension. PMID: 15661075
    36. concluded that the T594M allele does not contribute significantly to blood pressure in blacks and does not predict a significantly superior response to amiloride therapy PMID: 16432044
    37. SCNN1B is a modulator in Cystic fibrosis. PMID: 16463024
    38. P616H mutation may be the underlying cause for the signs and symptoms of Liddle's syndrome. PMID: 16943574
    39. Concerted action of short chain fatty acids and corticosteroid hormones is required for induction of ENaC and maintenance of intestinal electrogenic sodium absorption PMID: 17241874
    40. both mouse and human mammary cells express all ENaC subunits, and they are regulated by steroid hormones in a temporal and cell-specific manner both in culture and in vivo PMID: 17510235
    41. genetic variants in ENaCbeta (epithelial sodium channel beta) genes do not modulate disease severity in the majority of CF patients PMID: 17560176
    42. We have identified a polymorphic GT short tandem repeat, which is present in the Chilean population. Biochemical analysis showed a possible linkage between this polymorphic region and low renin hypertension. PMID: 17586416
    43. We have shown a modest sized but highly significant effect of common genetic variation in the SCNN1B gene on plasma potassium PMID: 18184758
    44. A novel point mutation in epithelial sodium channel beta subunit, causing a substitution of a leucine residue for the second proline residue of the conserved PY motif (PPP x Y) of the beta subunit was identified in the proband PMID: 18398334
    45. Several variants in ENaCbeta and gamma genes might be deleterious for ENaC function and lead to bronchiectasis. PMID: 18507830
    46. SCNN1B is hypermethylated in renal cell carcinoma. PMID: 18639284
    47. Alpha-, beta- and gamma-ENaC messenger RNAs are detected in amiloride-sensitive BeWo trophoblast cells. PMID: 18665318
    48. A Thai family with Liddle's syndrome caused by a novel P615H missense mutation in the proline-rich domain of the SCNN1B gene coding for the beta-subunit of ENaC. PMID: 19344079

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  • 相关疾病：
    Pseudohypoaldosteronism 1, autosomal recessive (PHA1B); Liddle syndrome (LIDLS); Bronchiectasis with or without elevated sweat chloride 1 (BESC1)
  • 亚细胞定位：
    Apical cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane.
  • 蛋白家族：
    Amiloride-sensitive sodium channel (TC 1.A.6) family, SCNN1B subfamily
  • 组织特异性：
    Detected in placenta, lung and kidney. Expressed in kidney (at protein level).
  • 数据库链接：

    HGNC: 10600

    OMIM: 177200

    KEGG: hsa:6338

    STRING: 9606.ENSP00000345751

    UniGene: Hs.414614