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

TRAPPC2 Antibody

  • 中文名稱:
    TRAPPC2兔多克隆抗體
  • 貨號:
    CSB-PA024227GA01HU
  • 規格:
    ¥3,900
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    TRAPPC2
  • 別名:
    TRAPPC2 antibody; SEDL antibody; Trafficking protein particle complex subunit 2 antibody; Sedlin antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human TRAPPC2
  • 免疫原種屬:
    Homo sapiens (Human)
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity Purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB
  • 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:
    Prevents transcriptional repression and induction of cell death by ENO1. May play a role in vesicular transport from endoplasmic reticulum to Golgi.
  • 基因功能參考文獻:
    1. c.93+5G>A mutation in the TRAPPC2 gene is associated with X-linked spondyloepiphyseal dysplasia in a Chinese family. PMID: 26252088
    2. a novel hemizygous mutation, c.341-(11_9)delAAT, in an intron of TRAPPC caused spondyloepiphyseal dysplasia tarda PMID: 23656395
    3. Data suggest that c.267_271delAAGAC frameshift mutation of the exon 5 of the spondyloepiphyseal dysplasia, late protein (SEDL) gene probably underlies the disease in the family. PMID: 25297591
    4. identification of the novel nonsense mutation (c.61G>T) in the SEDT family enables carrier detection, genetic counseling, and prenatal diagnosis. PMID: 24841781
    5. A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. PMID: 23876379
    6. Studies indicate that splice site mutation that leads to aberrant splicing often causes genetic skeletal system disease, like COL1A1, SEDL and LRP. PMID: 23800666
    7. Sedlin bound and promoted efficient cycling of Sar1, a guanosine triphosphatase that can constrict membranes, and thus allowed nascent carriers to grow and incorporate procollagen prefibrils. PMID: 23019651
    8. Data show that a disease-causing mutation of TRAPPC2, D47Y, failed to interact with either TRAPPC9 or TRAPPC8, suggesting that aspartate 47 in TRAPPC2 is at or near the site of interaction with TRAPPC9 or TRAPPC8. PMID: 21858081
    9. Data indicate SPATA4 interacts with the C2 portion of the TRAPP complex. PMID: 21827752
    10. SEDLIN is present in the nucleus, forms homodimers and that SEDT-associated mutations cause a loss of interaction with the transcription factors MBP1, PITX1 and SF1. PMID: 20498720
    11. The results suggest that nucleus-localized Sedlin may play a role in regulation of transcriptional activities of the MRG family of transcription factors via binding to PAM14. PMID: 20108251
    12. Identification of the novel insertion mutation (c.370-371insA) in this X-linked spondyloepiphyseal dysplasia tarda family is predicted to result in frameshifts and generate a premature stop codon PMID: 19766614
    13. A novel mutation produces a truncated protein, which may be useful in determining carboxy-terminal function PMID: 12030902
    14. SEDL mutations are not a common cause of early primary osteoarthritis in men. PMID: 12123495
    15. The mutation IVS2 -2A-->C of SEDL gene was firstly determined in the world. The change of the splice acceptor in SEDL intron 2 may cause skipping of exon 3 which is responsible for the X-linked spondyloepiphyseal dysplasia tarda. PMID: 12579492
    16. A previously unreported deletion of T in exon 5 of SEDL gene (293delT) was observed in 2 spondyloepiphyseal dysplasia probands in a Chinese family; seven individuals in the family carry the mutation resulting in frameshift and a putative truncated protein PMID: 12650905
    17. 3 new SEDL mutations were found: 1 in the non-canonical 5' splice site of intron 4 (IVS4+4T>C), a deletion in exon 6 [333-336del(GAAT) & a 1.335-kb deletion (in5/ex6del). PMID: 12919139
    18. Sedl protein may participate in the ER-to-Golgi transport as part of a novel highly conserved multiprotein TRAPP complex PMID: 12939648
    19. Six novel SEDL mutations found in European X-linked spondyloepiphyseal dysplasia tarda patients. PMID: 15221797
    20. The 13 bp deletion mutation consisting of IVS5-2-1delAG and 322-332del TTTTCAATGAA was identified in SEDL patients, but not detected in unrelated normal male individuals. PMID: 15300622
    21. Data show that mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site. PMID: 15952107
    22. SEDL gene mutation in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda (SEDL) PMID: 18247296
    23. A novel missense mutation (H80R) was identified for SEDL gene in the large Chinese SEDT pedigree. PMID: 18393234
    24. results illustrate how disruption of the AT donor site in a rare AT-AC intron, leading to a canonical GT donor site, resulted in a multitude of aberrant transcripts, thus impairing exon definition of the SEDL gene. PMID: 19002213
    25. A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family. PMID: 19417549

    顯示更多

    收起更多

  • 相關疾病:
    Spondyloepiphyseal dysplasia tarda (SEDT)
  • 亞細胞定位:
    Cytoplasm, perinuclear region. Endoplasmic reticulum-Golgi intermediate compartment. Nucleus. Cytoplasm.
  • 蛋白家族:
    TRAPP small subunits family, Sedlin subfamily
  • 組織特異性:
    Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, skeletal muscle, fetal cartilage, fibroblasts, placenta and lymphocytes.
  • 數據庫鏈接:

    HGNC: 23068

    OMIM: 300202

    KEGG: hsa:6399

    STRING: 9606.ENSP00000392495

    UniGene: Hs.592238



主站蜘蛛池模板: 国产α片免费观看在线人| 超caopor在线公开视频| 国产福利无码一区在线| 最新亚洲中文av在线不卡| 欲妇荡岳丰满少妇岳| 18禁午夜宅男成年网站| 老熟女高潮喷水了| 国产suv精品一区| 无码专区3d动漫精品免费| 日韩高清亚洲日韩精品一区| 国产在线无码一区二区三区| 国产免费人成网站x8x8| 欧美性受xxxxzooz乱毛| 欧美人与动牲交aⅴ| 国产精品亚洲lv粉色| 牲欲强的熟妇农村老妇女视频| 青青青国产在线观看资源| 一区二区三区在线 | 日| 免费人成激情视频在线观看冫| 欧美性xxxxx极品娇小| 亚洲精品久久区二区三区蜜桃臀| 久久久www成人免费精品| 国产精品三级国产电影| 亚洲综合色在线观看一区| 漂亮人妻被强中文字幕久久| 精品丰满人妻无套内射| 日本内射精品一区二区视频| 97碰碰碰免费公开在线视频| 狠狠久久精品中文字幕无码| 国产精品va无码二区| 久热国产精品视频一区二区三区 | 亚洲国产成人在人网站天堂| 性高朝久久久久久久久久| 精品久久久无码人妻字幂| 久久亚洲精品中文字幕| 国产精品人妻久久毛片| 成人爽a毛片在线视频淮北| 欧美精品无码一区二区三区| 欧美丰满大乳大屁股流白浆| 亚洲美女精品免费视频| 婷婷综合久久狠狠色99h|