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

EVC2 Antibody

  • 中文名稱:
    EVC2兔多克隆抗體
  • 貨號:
    CSB-PA097491
  • 規格:
    ¥1100
  • 圖片:
    • The image on the left is immunohistochemistry of paraffin-embedded Human colon cancer tissue using CSB-PA097491(EVC2 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200)
    • The image on the left is immunohistochemistry of paraffin-embedded Human ovarian cancer tissue using CSB-PA097491(EVC2 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200)
    • Gel: 6%SDS-PAGE, Lysate: 40 μg, Lane: Human placenta tissue, Primary antibody: CSB-PA097491(EVC2 Antibody) at dilution 1/450, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 7 minutes
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
  • 別名:
    EVC2 antibody; LBN antibody; Limbin antibody; Ellis-van Creveld syndrome protein 2 antibody; EVC2 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Synthetic peptide of Human EVC2
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen affinity purification
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB,IHC
  • 推薦稀釋比:
    Application Recommended Dilution
    ELISA 1:1000-1:2000
    WB 1:200-1:1000
    IHC 1:50-1:200
  • 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:
    Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.
  • 基因功能參考文獻:
    1. he whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene. PMID: 29321360
    2. sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families.. PMID: 26580685
    3. Sequencing of both EVC and EVC2 identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC, which were inherited from mother and father, respectively. PMID: 26621368
    4. we identified 2 independent mutations in EVC2 gene in patients with WAD, including one novel. PMID: 23220543
    5. Identification of a novel genotype in EvC will provide clues to phenotype-genotype relations and may assist not only in the clinical diagnosis of EvC but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling PMID: 23026208
    6. Emerging molecular and developmental studies suggest that EVC and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes. PMID: 21533779
    7. In this study, two novel heterozygous EVC2 mutations, IVS 5-2A > G and c.2653C > T (Arg88 5X), were identified in the patient; the IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father PMID: 21815252
    8. Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects. PMID: 21199751
    9. STK32b, EVC and EVC2 genes yielded suggestive evidence for linkage and disepuilibrium among cleft palate trios. PMID: 20087401
    10. A novel splice site mutation (c.2047-1G>T) in intron 13 of EVC2 gene was found in a family with child diagnosed with Ellis-van Creveld syndrome in the United Arab Emirates. PMID: 20184732
    11. The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog signal transduction in NIH 3T3 cells in keeping with its dominant effect. PMID: 19810119
    12. EVC2 is mutated in an Ashkenazi individual with Ellis-van Creveld syndrome PMID: 12468274
    13. Mutations in this gene cause Ellis-van Creveld syndrome. PMID: 12571802
    14. Data provide conclusive evidence that Weyers acrofacial dysostosis and EvC syndrome are allelic and genetically heterogeneous conditions. PMID: 16404586
    15. EVC and LBN play roles in cardiovascular development and disease. PMID: 19251731

    顯示更多

    收起更多

  • 相關疾病:
    Ellis-van Creveld syndrome (EVC); Acrofacial dysostosis, Weyers type (WAD)
  • 亞細胞定位:
    Cell membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cell projection, cilium membrane. Nucleus.
  • 組織特異性:
    Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas.
  • 數據庫鏈接:

    HGNC: 19747

    OMIM: 193530

    KEGG: hsa:132884

    STRING: 9606.ENSP00000342144

    UniGene: Hs.87306



主站蜘蛛池模板: 十八禁视频在线观看免费无码无遮挡骂过 | 亚洲一区二区三区影院| 无尺码精品产品日韩| 蜜臀av网站在线| 亚洲精品白浆高清久久久久久| 国偷自产一区二区免费视频| 人妻巨大乳挤奶水hd免费看| 中文日产幕无线码6区收藏| 色欲狠狠躁天天躁无码中文字幕| 色综合久久无码中文字幕 | 撕开奶罩揉吃奶高潮av在线观看 | 亚洲精品乱码久久久久久久久久久久| 国产真实夫妇交换视频| 婷婷网亚洲色偷偷男人的天堂| 人妻熟妇乱又伦精品视频无广告| 男人的天堂在线视频| 免费国产a国产片高清| 欧美肥老太牲交| 国内精品久久人妻互换| 人妻无码久久精品人妻| 国产熟女亚洲精品麻豆| 人妻老妇乱子伦精品无码专区 | 国产人妻人伦精品| 日本老妇人乱xxy| 国产成人av片无码免费| 7777色鬼xxxx欧美色妇| 国产成人麻豆亚洲综合无码精品 | 国产乱视频在线观看| 麻豆av字幕无码中文| 久久久国产乱子伦精品| 国产亚洲精品久久久久久牛牛| 亚洲有无码av在线播放| 国产亚洲中文字幕在线制服| 亚洲一区二区三区尿失禁| 欲香欲色天天天综合和网| 免费人成在线视频无码| 99re久久精品国产首页| 国产精品兄妹在线观看麻豆| 又粗又紧又湿又爽的视频| 三级网站视频在在线播放| 国产大屁股喷水视频在线观看|