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GNAS Antibody

  • 中文名稱：
    GNAS兔多克隆抗體
  • 貨號：
    CSB-PA307619LA01HU
  • 規(guī)格：
    ￥440
  • 促銷：
    小規(guī)格抗體限時一口價
  • 圖片：
    • Western Blot
      Positive WB detected in: MCF-7 whole cell lysate, HepG2 whole cell lysate
      All lanes: GNAS antibody at 3.4µg/ml
      Secondary
      Goat polyclonal to rabbit IgG at 1/50000 dilution
      Predicted band size: 68 kDa
      Observed band size: 68 kDa
    • IHC image of CSB-PA307619LA01HU diluted at 1:600 and staining in paraffin-embedded human brain tissue 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-PA307619LA01HU diluted at 1:600 and staining in paraffin-embedded human small intestine tissue 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 MCF-7 cells with CSB-PA307619LA01HU at 1:200, 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：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) GNAS Polyclonal antibody
  • Uniprot No.：
  • 基因名：
  • 別名：
    GNAS antibody; GNAS1Protein ALEX antibody; Alternative gene product encoded by XL-exon antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human
  • 免疫原：
    Recombinant Human Protein ALEX protein (310-404AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    Non-conjugated

    本頁面中的產(chǎn)品，GNAS Antibody (CSB-PA307619LA01HU)，的標記方式是Non-conjugated。對于GNAS Antibody，我們還提供其他標記。見下表：

    可提供標記
    標記方式 貨號 產(chǎn)品名稱 應用
    HRP CSB-PA307619LB01HU GNAS Antibody, HRP conjugated ELISA
    FITC CSB-PA307619LC01HU GNAS Antibody, FITC conjugated
    Biotin CSB-PA307619LD01HU GNAS Antibody, Biotin conjugated ELISA
  • 克隆類型：
    Polyclonal
  • 抗體亞型：
    IgG
  • 純化方式：
    >95%, Protein G purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 產(chǎn)品提供形式：
    Liquid
  • 應用范圍：
    ELISA, WB, IHC, IF
  • 推薦稀釋比：
    Application Recommended Dilution
    WB 1:500-1:5000
    IHC 1:500-1:1000
    IF 1:200-1:500
  • Protocols：
  • 儲存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    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.

產(chǎn)品評價

靶點詳情

  • 功能：
    May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame.
  • 基因功能參考文獻：
    1. Activating GNAS (R201C) mutations were found in 2 unrelated patients with virilizing ovarian Leydig cell tumors. This mutation and subsequent cAMP increase may play a significant role in the pathogenesis of virilizing LCT through the stimulation of androgen production and tumor development. PMID: 29056280
    2. mutation analysis of GNAS by pyrosequencing has diagnostic value in FFPE tissue of patients with FD, especially in specimens that were not decalcified. The R201H substitution mutation of GNAS may be involved in the pathogenesis of polyostotic FD. PMID: 28588314
    3. GNAS mutations can be used as good diagnostic tool to distinguish intramuscular / cellular myxoma from low-grade myxofibrosarcoma, especially on biopsy material. PMID: 30111377
    4. GNAS T/C 393 frequencies were similar in control and PHPT groups. No association was found between genotypes and clinical expression of PHPT. A nonstatistically significant trend was seen to lower BMD in the lumbar spine, femoral neck, and total hip in both PHPT and control C homozygote subjects. A C allele-related susceptibility to lower BMD in trabecular bone in both groups is not enough to suggest more severity. PMID: 29179855
    5. model suggests Cys1004 in AC6 (subunit C2) and Cys174 in Galphas present at the AC-Galphas interface as the possible residues that might undergo reversible nitrosylation. Docking analysis predicted novel ligands of AC6 that include forskolin-based compounds and its derivatives. PMID: 29327289
    6. In a cohort of patients with pancreatic cysts, KRAS and GNAS mutations had no significant diagnostic benefit in comparison with conventional testing. PMID: 29796909
    7. High GNAS expression is associated with poor prognosis in intrahepatic cholangiocarcinoma. PMID: 29291784
    8. we did not observe GNAS or BRAF mutations in urachal adenocarcinomas PMID: 28285720
    9. GNAS mutation is a highly specific test for IPMN. When GNAS testing is added to CEA and KRAS, a significantly greater overall accuracy (86.2%) is achieved. PMID: 27514845
    10. Our study demonstrates that GNAS mutations are present in a small subset (0.8%) of primary lung carcinomas. PMID: 28776576
    11. Mutation in GNAS is associated with Albright Hereditary Osteodystrophy. PMID: 29059381
    12. Both tissue blocks examined were positive for a GNAS p.R201H (c.602G>A) mutation (Fig. 3) at an allele frequency of 4.3 and 9.6% PMID: 28258512
    13. We now describe a family in which the female proband and her daughter with a maternally inherited 2015-bp deletion that includes GNAS exon 1 PMID: 28711660
    14. An association of the GNAS1 T393C polymorphisms with risk of aseptic loosening after total hip arthroplasty is unlikely. PMID: 28830502
    15. Combining Real-Time COLD- and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndrome. PMID: 28334704
    16. GNAS mutations contribute significantly to the development of a subset of serrated adenomas and colorectal carcinomas PMID: 28164369
    17. GNAS harbors 2 SNPs that were associated with an increased risk for ventricular tachyarrhythmia in implantable cardioverter defibrillator patients, of which 1 was successfully replicated in a community-based population of sudden cardiac death cases. PMID: 27895044
    18. RAS and GNAS mutations were associated with worse progression-free survival (PFS) at univariate analysis (P = 0.006 and 0.011, respectively). At multivariate analysis, only KRAS mutations were independently associated with PFS (P = 0.012); GNAS mutations were not-being significantly associated with other poor prognostic features such as incomplete cytoreduction or KRAS mutations PMID: 27502722
    19. Ectopic expression of the human gain-of-function mutation GNAS(R201C) in mice supported transplantable HSC activity and improved lymphoid output in secondary recipients. Because declining lymphoid output is a hallmark of aging, GNAS(R201C) mutations may sustain lymphoid-biased HSCs over time and maintain them in a developmental state favorable for transformation. PMID: 28939416
    20. This is the first report to show that PLEKHG2 is a novel effector of Galphas, and is negatively regulated by the Galphas subunit through direct interaction. PMID: 28108261
    21. The presence of a mutation in GNAS is helpful in identifying a mucin-producing Pancreatic cyst and is found in more than 90% of Intraductal Papillary Mucinous Pancreas Neoplasms . PMID: 28890216
    22. pseudomyxoma peritonei patients with GNAS mutations had a significantly shorter median progression-free survival as compared to GNAS wild-type ones. PMID: 27154293
    23. GNAS mutation is associated with gastric cancer. PMID: 28160572
    24. Mechanical stress affects methylation pattern of GNAS isoforms and osteogenic differentiation of human adipose tissue-derived mesenchymal stem cells. PMID: 28483487
    25. patients with Pseudohypoparathyroidism type 1A, parathormone resistance and hypocalcemia develop over time. These findings highlight the importance of screening for maternal GNAS mutations in the presence of ectopic ossifications or family history, even in the absence of parathormone resistance and hypocalcemia. PMID: 28323910
    26. Mutation in GNAS gene is associated with Pancreatic Ductal Adenocarcinoma. PMID: 28810144
    27. activating mutations in GNAS and Kras cooperatively promote murine pancreatic tumorigenesis PMID: 26257060
    28. These results indicate that the ICL2 region of the EP2 receptor is its potential interaction site with Galphas, and that the aromatic side chain moiety at position 143 is a determinant for the accessibility of the ICL2 to the Galphas protein. PMID: 28336329
    29. a novel p53/POMC/Galphas/SASH1 autoregulatory positive feedback loop is regulated by SASH1 mutations to induce pathological hyperpigmentation phenotype. PMID: 27885802
    30. There was a significant difference in the sensitivity of the assay between decalcified and nondecalcified FDs (31% vs. 70%, P=0.002). LNA-PCR has no added value in enhancing detection sensitivity for GNAS mutations in FD PMID: 26574629
    31. Further research exploring possible genetic variants such as the GNAS gene in children and adolescents diagnosed with MCA is warranted PMID: 28216128
    32. findings expand the spectrum of genetic mutations that lead to loss-of-methylation at exon A/B alone and thus biallelic expression of the transcript derived from this alternative first GNAS exon PMID: 28084650
    33. Mutations in GNAS gene is associated with ductal adenomas. PMID: 27438523
    34. Various genetic and epigenetic defects in European pseudohypoparathyroidism patients. PMID: 27428667
    35. The molecular analysis of the GNAS gene in PHP and locus identified the causal alteration in 74 subjects (46 genetic and 28 epigenetic mutations). The clinical data at the diagnosis and their evolution during up to 15 years follow-up were collected using two different cards. PMID: 27871293
    36. 12(S)-HETrE, a 12-lipoxygenase oxylipin of dihomo-gamma-linolenic acid, inhibits thrombosis via Galphas signaling in platelets. PMID: 27470510
    37. acylation-deacylation cycle is important for the steady-state localization of Galphas at the plasma membrane, but our results do not support a role for deacylation in activity-dependent Galphas internalization. PMID: 27528603
    38. GNAS mutations may be involved in the tumorigenesis of potentially malignant lobular endocervical glandular hyperplasia. PMID: 27718288
    39. GNAS mutation was not found in any colorectal cancer. PMID: 26350188
    40. Results suggest that G protein alpha S subunit (Galphas) plays a tumor-promoting role in renal cell carcinoma (RCC) and possibly acts through a protein kinase A (PKA)-dependent pathway. PMID: 28051330
    41. Progressive osseous heteroplasia has been found to be associated with different phenotypes caused by inactivating GNAS mutations, which is why it cannot be categorized as one distinct Mendelian trait PMID: 27058263
    42. Data show that G protein (heterotrimeric guanine nucleotide-binding protein)-coupled receptor (GPR37L1) coupled to the G protein Galpha(s) when heterologously expressed in cultured cells. PMID: 27072655
    43. Studies indicate that adenylate cyclase-stimulating G alpha protein (GNAS) mutation was identified in two branch-duct gastric-type intraductal papillary mucinous neoplasms of the pancreas (BrD-IPMN). PMID: 27077715
    44. Presence of GNAS mutations in aldosterone-producing adenomas, as well as in some cortisol-secreting adenomas. PMID: 26743443
    45. The genetic defect(s) leading in Pseudohypoparathyroidism Type Ib to epigenetic GNAS changes and thus PTH-resistance remains unknown, but it seems unlikely that this disease variant is caused by heterozygous inherited or de novo mutations involving GNAS. PMID: 26479409
    46. Data show that both mother and child revealed a frameshift that resulted from a heterozygous 2-base pair (bp) deletion at codon 63 (c.188_189delTG) in Gs alpha GTP-binding protein subunits (Gs-alpha) encoded by the GNAS gene. PMID: 26401884
    47. DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress PMID: 26333472
    48. GNAS mutations are highly specific for fibrous dysplasia and occur rarely, if ever, in parosteal and other low-grade osteosarcomas. PMID: 26248895
    49. functional evidence that G-protein coupling to the beta2AR stabilizes a 'closed' receptor conformation characterized by restricted access to and egress from the hormone-binding site PMID: 27362234
    50. imprinting of GNAS is the determining factor for the variability of the phenotype. PMID: 23548772

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  • 相關疾?。?/div>
    GNAS hyperfunction (GNASHYP); ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1); Pseudohypoparathyroidism 1B (PHP1B); Colorectal cancer (CRC)
  • 亞細胞定位：
    Cell membrane; Peripheral membrane protein. Cell projection, ruffle.
  • 蛋白家族：
    ALEX family
  • 數(shù)據(jù)庫鏈接：

    HGNC: 4392

    OMIM: 114500

    UniGene: Hs.125898