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

TCOF1 Antibody

  • 中文名稱:
    TCOF1兔多克隆抗體
  • 貨號:
    CSB-PA050224
  • 規格:
    ¥1090
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    TCOF1
  • 別名:
    Mandibulofacial dysostosis antibody; MFD1 antibody; Nucleolar trafficking phosphoprotein antibody; TCOF 1 antibody; TCOF_HUMAN antibody; TCOF1 antibody; TCS antibody; TCS1 antibody; Treacher Collins Franceschetti syndrome 1 antibody; Treacher Collins syndrome antibody; Treacher Collins syndrome protein antibody; Treacle antibody; Treacle protein antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse
  • 免疫原:
    Synthesized peptide derived from the N-terminal region of Human Treacle.
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated
  • 抗體亞型:
    IgG
  • 純化方式:
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    WB, IHC, IF, ELISA
  • 推薦稀釋比:
    Application Recommended Dilution
    WB 1:500-1:2000
    IHC 1:100-1:300
    IF 1:200-1:1000
    ELISA 1:10000
  • 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:
    Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification. Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification.
  • 基因功能參考文獻:
    1. Data indicate that Treacher Collins-Franceschetti syndrome 1 protein (TCOF1) was the main disease-causing gene for the Chinese Treacher Collins syndrome (TCS) population and its mutation spectrum. PMID: 29230583
    2. Performed mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome. PMID: 27526242
    3. The analysis results showed that the Tcof1-related genes were enriched in various biological processes, including cell proliferation, apoptosis, cell cycle, differentiation, and migration. PMID: 27300466
    4. We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. PMID: 25790162
    5. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. PMID: 24603435
    6. findings identify TCOF1 as a DDR factor that could cooperate with ATM and NBS1 to suppress inappropriate rDNA transcription and maintain genomic integrity after DNA damage. PMID: 25512513
    7. we describe for the first time, two patients with MFD and ID and for whom a deletion encompassing TCOF1 and CAMK2A has been identified PMID: 23695276
    8. Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS PMID: 24690222
    9. Treacle-mediated NBS1 recruitment into the nucleoli regulates rRNA silencing in trans in the presence of distant chromosome breaks. PMID: 25064736
    10. TCOF1 genetic mutation can be a cause of Treacher Collins syndrome in Chinese patients. PMID: 23838542
    11. Presents the case of a male with Treacher Collins syndrome with a heterozygous de novo frameshift mutation within the TCOF1 gene (c.790_791delAG,p.Ser264GlnfsX7), as well as findings from three other individuals from two families with the same mutation. PMID: 22729243
    12. 6 of 12 patients diagnosed with hemifacial microsomia exhibited a novel frameshift mutation c. 4127 ins G in exon 24 in the TCOF1 gene. PMID: 21848650
    13. Gene rearrangements in TCOF1 are responsible for Treacher-Collins-Franceschetti syndrome. PMID: 22317976
    14. Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases of Treacher Collins syndrome. PMID: 21951868
    15. We demonstrated that adult leucocytes and mesenchymal cells from TCS patients present significantly reduced levels of TCOF1 PMID: 20003452
    16. The identification of a novel pathogenic missense change in exon 2 of the TCOF1 gene suggests that a functionally important domain of treacle exists near the N-terminus. PMID: 12114482
    17. Patients with Goldenhar, Nager, or Miller syndromes may resemble Treacher-Collins, but are unlikely to have mutations at this locus. PMID: 12210332
    18. Identification of 231-nucleotide(nt) exon 6A and 108-nt exon 16A and isoforms with exon 6A are up to 3.7-fold more abundant than alternatively spliced variants without exon 6A, but only minor isoforms contain exon 16A. PMID: 15019983
    19. In this study we identified a TCOF1 1408delAG heterozygous mutation in a patient with the clinical diagnosis of TCS (treacher collins syndrome). PMID: 15039977
    20. Results show that treacle is involved in ribosomal DNA gene transcription by interacting with upstream binding factor (UBF). PMID: 15249688
    21. A novel mutation within exon 6A is associated with Treacher Collins syndrome. PMID: 15832313
    22. The -346T allele impairs DNA-binding to the YY1 transcription factor, and this promoter variant represents a candidate allele to explain the clinical variability in patients bearing Treacher Collins syndrome. PMID: 16102917
    23. A 5-bp deletion in exon 22 of the TCOF1 gene (3469del ACTCT) was found to cause a premature stop codon. PMID: 16801042
    24. These observations strongly suggest that the TCOF1 genetic changes observed in these five patients might be related to oculo-auriculo-vertebral spectrum symptoms. PMID: 17786119
    25. TCOF1 may influence risk of cleft palate through maternal transmission. PMID: 18688869
    26. It has been hypothesized that mutations in Tcof1 disrupt ribosome biogenesis to a degree that is insufficient to meet the proliferative needs of the neuroepithelium and neural crest cells. PMID: 19027870
    27. The novel mutation of Ala26Val is considered to affect the LisH domain, an important domain of treacle. All of the mutations thus far detected in exon 5 have resulted in frameshift, but a nonsense mutation was detected (Lys159Stop). PMID: 19067896
    28. central repeated domain of treacle binds with RNA polymerase I, while that the treacle C-terminus is involved in rDNA promoter recognition and UBF recruitment. PMID: 19527688

    顯示更多

    收起更多

  • 相關疾病:
    Treacher Collins syndrome 1 (TCS1)
  • 亞細胞定位:
    Nucleus, nucleolus.
  • 數據庫鏈接:

    HGNC: 11654

    OMIM: 154500

    KEGG: hsa:6949

    STRING: 9606.ENSP00000421655

    UniGene: Hs.519672



主站蜘蛛池模板: 亚洲五月综合缴情在线观看| 国产精品成人无码久久久| 国产揄拍国产精品| 国产精品久久久久9999不卡| 乌克兰性欧美精品高清| 欧美成人精品第一区| 伊人成色综合网| 国产精品无码人妻一区二区在线 | 日韩精品久久久久久免费| 亚洲精品一区国产精品| 无码av免费毛片一区二区| 麻豆国产成人av在线播放| 人妻系列无码专区无码中出| 亚洲熟女乱色一区二区三区| 亚洲第一综合天堂另类专| 亚洲夜色噜噜av在线观看| 啪啪激情婷婷久久婷婷色五月| 男女高潮喷水在线观看| 无码精品黑人一区二区三区| 久9re热视频这里只有精品| 中国xxxx做受视频| 亚洲欧洲精品a片久久99| 狠狠噜天天噜日日噜视频麻豆 | 99久久国产自偷自偷免费一区| 国产亚洲日韩欧美另类丝瓜app| 蜜臀av色欲a片无码一区二区| 狠狠躁天天躁夜夜躁婷婷| 好男人社区www在线官网| 欧美成aⅴ人高清怡红院| 亚洲国产精品自在拍在线播放蜜臀 | 欧美一性一乱一交一视频| 精品亚洲成a人片在线观看| 97久久精品人人槡人妻人| 成人小说亚洲一区二区三区| 久久精品这里热有精品| 婷婷色爱区综合五月激情| 99久久伊人精品综合观看| 精品成在人线av无码免费看| 色偷偷av男人的天堂| 99久久免费国产精品四虎| 国产精品麻豆成人av电影艾秋|