在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

NR2E3 Antibody, HRP conjugated

  • 中文名稱:
    NR2E3兔多克隆抗體, HRP偶聯
  • 貨號:
    CSB-PA865585LB01HU
  • 規格:
    ¥880
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) NR2E3 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
  • 別名:
    ESCS antibody; MGC49976 antibody; NR2 E3 antibody; Nr2e3 antibody; NR2E3_HUMAN antibody; Nuclear receptor subfamily 2 group E member 3 antibody; Photoreceptor specific nuclear receptor antibody; Photoreceptor-specific nuclear receptor antibody; PNR antibody; Rd 7 antibody; Rd7 antibody; Retina specific nuclear receptor antibody; Retina-specific nuclear receptor antibody; Retinal degeneration 7 antibody; RNR antibody; RP37 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human Photoreceptor-specific nuclear receptor protein (112-222AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    HRP
  • 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
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA
  • 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.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

  • 功能:
    Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression.
  • 基因功能參考文獻:
    1. A diagnosis of autosomal recessive retinitis pigmentosa (ARRP) with cystic maculopathy, caused by compound heterozygous mutation in the gene NR2E3, was made. PMID: 29193891
    2. The patient presented characteristic symptoms, morphology and electrophysiological characteristics for S-cone deficiency syndrome and presented heterozygous for two mutations, one of which (c.790G>A; p.G264R in NR2E3), to our knowledge, has not been previously reported. PMID: 27573156
    3. A substitution in exon 2 of NR2E3, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had normal karyotype PMID: 29034877
    4. Photoreceptor-specific nuclear receptor (PNR/NR2E3) and Tailless homolog (TLX/NR2E1) are human orthologs of the NR2E group. PMID: 28300834
    5. The frameshift mutation found in patient 1, p.I307LfsX33, is a new causative mutation for ESCS; it is located in exon 6. This mutation truncates the 410 amino acids in the normal NR2E3 protein into 306 amino acids and causes the synthesis of a protein lacking more than half of the ligand-binding domain. PMID: 27522502
    6. Autosomal dominant retinitis pigmentosa due to p.Gly56Arg mutation in the NR2E3 gene PMID: 26910043
    7. NR2E3 is a novel epigenetic regulator that helps to maintain a normal epigenetic status in response to benzo(a)pyrene mediated toxic injury. NR2E3 may be a potential target for cancer prevention. PMID: 26149760
    8. Study presents evidence that PNR could promote ERalpha-negative breast cancer metastasis through activation of IL-13Ralpha2-mediated signaling pathway. PMID: 24747967
    9. Direct sequencing of NR2E3 identified 3 previously described mutations and 4 novel mutations in Enhanced S-cone syndrome (ESCS) forms PMID: 25079116
    10. Molecular genetic studies helped to identify a novel p.D406G mutation in NR2E3 of the Goldmann-Favre syndrome (GFS) and vasoproliferative tumors of the retina affected members. PMID: 24891813
    11. Genetic screening confirmed the presence of two disease-causing mutations in the NR2E3 gene in each study patient, as well as identified a novel mutation (202 A > G, S68G). PMID: 23604511
    12. PNR/NR2E3 and related NRs such as TLX and COUPTFs can selectively associate with the developmental corepressor BCL11A via a conserved motif F/YSXXLXXL/Y within the RID1 domain. PMID: 23975195
    13. The diagnosis of enhanced S-cone syndrome was suggested by the uniquely abnormal electroretinographic pattern and was confirmed by the finding of homozygous NR2E3 mutations. PMID: 23039133
    14. we report novel mutations in the NR2E3 gene that were discovered in 2 cases with enhanced S-cone syndrome. PMID: 23374571
    15. Homozygous autosomal recessive retinitis pigmentosa-causing mutations have been found in three Indian families. These included a deletion-cum-insertion in NR2E3. PMID: 22605927
    16. The presence of a double concentric hyperautofluorescent ring of FAF may represent a highly penetrant early phenotypic marker of NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa PMID: 22661467
    17. NR2E3 is essential for expression of ESR1 in ER-positive breast cancer cells by binding directly to the proximal region of the ESR1 promoter. PMID: 22174013
    18. In HeLa cells, PNR stimulated tumor suppressor p53-responsive promoters in a tumor suppressor p53-dependent fashion and induced apoptosis in several cell types. PMID: 22025681
    19. The purpose of this study was to compare the nature and implications of mutations in NR2E3 in two subjects with enhanced S Cone Syndrome who have significantly different degrees of degenerative damage. PMID: 21364904
    20. This homozygous mutation is likely to affect binding to target DNA sites, resulting in a non-functional behavior of NR2E3 protein. PMID: 20725840
    21. In this study, NR2E3 mutations were found to be responsible for approximately 2.9% of overall retinitis pigmentosa (RP) in Chinese patients, NRL was not associated with RP. PMID: 19933183
    22. Helicoid subretinal fibrosis is another potential phenotypic manifestation of recessive NR2E3 mutation. PMID: 20212206
    23. DNA-binding domain mutations in NR2E3 affect in vivo dimerization and interaction with CRX PMID: 19823680
    24. A review of disease-associated NR2E3 mutations. PMID: 19718767
    25. In 16 ESCS patients with the most common NR2E3 mutation, R311Q, we documented an abnormal ratio of S to L/M cone function and progressive retinal degeneration. We studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q PMID: 11773633
    26. We found that enhanced S-cone syndrome, Goldmann-Favre syndrome and clumped pigmentary retinal degeneration can all have the same genetic basis. PMID: 12963616
    27. involved in regulating the expression of rod photoreceptor-specific genes at the transcriptional level PMID: 15190009
    28. A role for NR2E3 in the rod developmental pathway is suggested. PMID: 15277507
    29. Fifteen different mutations were identified, including six not previously reported, in patients with Enhanced S Cone Syndrome PMID: 15459973
    30. These experiments show that in mature vertebrate retina Nr2e3 is expressed exclusively in rods and that Nr2e3 functions as a repressor of cone-specific genes in rod photoreceptor cells. PMID: 15634773
    31. Nr2e3 is a dual-function transcriptional regulator that acts in concert with Crx to promote and maintain the function of rod photoreceptors. PMID: 15689355
    32. Our study suggests that the expression of these 2 mutants of NR2E3, acting as a dimer, is correlated with a mild form of ESCS (enhanced S-cone syndrome) PMID: 16225923
    33. We describe the localization and identification of the photoreceptor cell-specific nuclear receptor gene NR2E3 as a novel disease locus and gene for autosomal dominant retinitis pigmentosa. PMID: 17564971
    34. Gly56Arg mutation in NR2E3 accounts for approximately 1%-2% of adRP, making it one of the more common single mutations in autosomal dominant retinitis pigmentosa. PMID: 17982421
    35. NR2E3 gene mutational analyses were carried out in 103 unrelated subjects with different retinal diseases. A total of 14 different sequence variants were identified, including 3 mutations, 6 rare sequence variants and five polymorphisms PMID: 18294254
    36. The phenotype in enhanced S-cone syndrome is variable, both in fundus appearance and in the severity of the electrophysiological abnormalities. PMID: 18436841
    37. Functional analysis determined the dominant negative activity of the p.G56R mutant protein as the molecular mechanism of autosomal dominant retinitis pigmentosa (adRP). PMID: 19006237
    38. Two novel NR2E3 mutations are described that are associated with Goldmann-Favre syndrome and enhanced S-cone syndrome. PMID: 19139342
    39. Patients with NR2E3 mutations may manifest variable phenotypes. Moreover, patients who are homozygous for the same NR2E3 mutation have variable expression of retinal disease, suggesting the involvement of modifier genes. PMID: 19273793
    40. This study was undertaken to determine biochemical as well as functional consequences of reported sequence variants and disease-causing mutations in NR2E3. PMID: 19898638
    41. In a mouse model, Nr2e3 may function by regulating genes involved in cone cell proliferation. Mutations in this gene lead to retinal dysplasia and degeneration by disrupting normal photoreceptor cell topography as well as cell-cell interactions. PMID: 11487564

    顯示更多

    收起更多

  • 相關疾病:
    Enhanced S cone syndrome (ESCS); Retinitis pigmentosa 37 (RP37)
  • 亞細胞定位:
    Nucleus.
  • 蛋白家族:
    Nuclear hormone receptor family, NR2 subfamily
  • 組織特異性:
    Eye specific; found solely in the outer nuclear layer of the adult neurosensory retina, where the nuclei of cone and rod photoreceptors reside.
  • 數據庫鏈接:

    HGNC: 7974

    OMIM: 268100

    KEGG: hsa:10002

    UniGene: Hs.187354



主站蜘蛛池模板: 国产日韩精品中文字无码| 欧美丰满一区二区免费视频| 亚洲鲁丝片一区二区三区| 国产99久久九九精品无码| 免费国产h视频在线观看| 亚洲aⅴ无码国精品中文字慕| 亚洲欧美日韩愉拍自拍美利坚| 久久亚洲日韩av一区二区三区| 国产 日韩 中文字幕 制服| 欧美真人性做爰一二区| 5d肉蒲团之性战奶水| 日韩成人一区二区三区在线观看 | 四虎影成人精品a片| 欧美黑人粗大xxxxbbbb| 国产av一区二区三区无码野战 | 成年美女黄的视频网站| 欧美孕妇xxxx做受欧美88| 亚洲一卡2卡3卡4卡5卡乱码观看 | 国产手机在线国内精品| 人人做人人爽国产视| 中字幕久久久人妻熟女天美传媒| 中文无码人妻影音先锋| 亚洲愉拍自拍欧美精品| 美女高潮黄又色高清视频免费| 女人18毛片水真多免费看| 国产一区二区三区四区精华| 日日摸日日碰夜夜爽无| 老熟妇乱子伦牲交视频| 8x8ⅹ在线永久免费入口| 日本不卡三区| 国产亚洲精品久久综合阿香| 97夜夜澡人人双人人人喊| 国产精品久久国产精品99| 国内揄拍高清国内精品对白| 亚洲国产成人精品久久久| 亚洲亚洲人成无码网www| 动漫精品中文无码卡通动漫| 亚洲中文字幕无码中文字| 好男人社区www在线官网| 又爆又大又粗又硬又黄的a片| 欧洲熟妇色xxxx欧美老妇软件|