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

POMGNT1 Antibody, Biotin conjugated

  • 中文名稱:
    POMGNT1兔多克隆抗體, Biotin偶聯
  • 貨號:
    CSB-PA855513LD01HU
  • 規格:
    ¥880
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) POMGNT1 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    POMGNT1
  • 別名:
    2-N-acetylglucosaminyltransferase 1 antibody; 2-N-acetylglucosaminyltransferase I.2 antibody; GnT I.2 antibody; GnTI.2 antibody; MEB antibody; MGAT 1.2 antibody; MGAT1.2 antibody; O linked mannose beta1 2 N acetylglucosaminyltransferase antibody; PMGT1_HUMAN antibody; POMGNT 1 antibody; POMGnT1 antibody; Protein O linked mannose beta 1 2 N acetylglucosaminyltransferase 1 antibody; Protein O linked mannose beta1 2 N acetylglucosaminyltransferase antibody; Protein O-linked-mannose beta-1 antibody; UDP GlcNAc antibody; UDP GlcNAc:alpha D mannoside beta 1 2 N acetylglucosaminyltransferase I.2 antibody; UDP-GlcNAc:alpha-D-mannoside beta-1 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 protein (59-300AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Biotin
  • 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:
    Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins. Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.
  • 基因功能參考文獻:
    1. These findings demonstrate that PomGnT1 might be a new focus of glioblastoma (GBM)research for treatment of recurrent Temozolomide -resistant GBM PMID: 29048655
    2. The authors have identified a novel mutation in POMGNT1 that causes nonsyndromic autosomal recessive retinitis pigmentosa, adding to the genetic heterogeneity of this retinal disease. PMID: 27391550
    3. Study identified recessive POMGNT1 mutations in three unrelated non-syndromic retinitis pigmentosa families showing significant impaired POMGNT1 enzymatic activity. PMID: 26908613
    4. When association tests were applied to data from the Diabetes Heart Study, it found exome variants of POMGNT1 and JAK1 genes were associated with type 2 diabetes. PMID: 26783077
    5. POMGNT1 Is Glycosylated by Mucin-Type O-Glycans PMID: 26328495
    6. study presents clinical, neuroradiological, and POMGNT1 findings in 12 muscle-eye-brain disease patients of Turkish origin from 10 families; suggests a genotype-phenotype correlation PMID: 24731844
    7. Data indicate that Golgi phosphoprotein 3 (GOLPH3) binds to and controls the Golgi localization of protein O-linked mannose beta-1,2-N-acetlyglucosaminyltransferase 1 (POMGnT1). PMID: 24733390
    8. Identification of novel POMGnT1 mutations in Chinese patients with muscle-eye-brain disease. PMID: 23689641
    9. POMGnT1 point mutations and protein expression are associated with variably severe muscle-eye-brain disease showing that severity of the phenotype does not correlate with protein expression. PMID: 22554691
    10. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. PMID: 22419172
    11. This study demonistreated that Intragenic rearrangements in POMGNT1 gene in muscle-eye-brain disease. PMID: 21727005
    12. these results show that the amino acid sequence affects POMGnT1 activity. PMID: 21684258
    13. This study gives a comprehensive biochemical evaluation of all clinically relevant POMGnT1 point mutations known to date, which have been linked to muscle-eye-brain disease or similar conditions. PMID: 21361872
    14. the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis PMID: 20816175
    15. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the MEB locus, in three Tunisian patients PMID: 12467726
    16. Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. 13 mutations have been identified in patients with MEB. The mutant POMGnT1s were expressed and none had any activity. PMID: 12788071
    17. Results describe the identification of a novel O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGnT1) gene missense mutation in muscle-eye-brain disease. PMID: 15236414
    18. DNA mutational analysis and phenotypes in patients with muscle-eye-brain disease PMID: 15466003
    19. Our results suggest that PomGnT1, enzymes involved in the O-mannosyl glycosylation pathway, play an active role in modulating integrin and laminin-dependent adhesion and migration of human neuronal cells. PMID: 16857188
    20. In conclusion, the lymphoblast-based enzymatic assay is a sensitive and useful method (i) to select patients harbouring POMGNT1, POMT1 or POMT2 mutations; (ii) to assess the pathogenicity of new or already described mutations. PMID: 17869517
    21. report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene; a 6-year-old sibling has a severe form of muscle-eye-brain (MEB) disease; the same mutation resulted in a less severe form of MEB in the older sibling PMID: 17881266
    22. data suggest mutational hotspots within the minimal catalytic domain at arginine residue 442 (exon 16) and in intron 17 PMID: 17906881

    顯示更多

    收起更多

  • 相關疾病:
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3); Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3); Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3); Retinitis pigmentosa 76 (RP76)
  • 亞細胞定位:
    Golgi apparatus membrane; Single-pass type II membrane protein.
  • 蛋白家族:
    Glycosyltransferase 13 family
  • 組織特異性:
    Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons.
  • 數據庫鏈接:

    HGNC: 19139

    OMIM: 253280

    KEGG: hsa:55624

    STRING: 9606.ENSP00000361052

    UniGene: Hs.525134



主站蜘蛛池模板: 亚洲精品无码久久久久| 色欲aⅴ亚洲情无码av蜜桃| 中文无码熟妇人妻av在线| 日本熟妇色高清免费视频| 天堂va视频一区二区| 久久久久久久久毛片精品| 97色伦图片97综合影院| 西西人体扒开下部试看120秒 | 亚洲熟妇久久国产精品| 亚洲综合精品成人| 国产成人av在线免播放观看| 亚洲中文字幕无码乱线| 国产av国片精品| 天堂网在线最新版www中文网| 久久国产免费观看精品3| 国产午夜高潮熟女精品av软件| 日韩精品人成在线播放| 俄罗斯美女真人性做爰| 丁香五月激情综合色婷婷| 国产美女露脸口爆吞精| 国产精品无码一区二区三区在| 激情综合色综合啪啪开心| 精品国精品国产自在久国产不卡| 色偷偷久久一区二区三区| 青青草大香焦在线综合视频| 欧洲多毛裸体xxxxx| 国产乱人伦偷精品视频免| 亚洲精品久久久久中文字幕二区| 在线播放亚洲第一字幕| 久久人妻无码aⅴ毛片a片app| 中文字幕在线不卡精品视频99| 国产又粗又硬又大爽黄老大爷视频| 狠狠色狠狠色综合久久| 亚洲高潮喷水无码av电影| 99国产精品欧美一区二区三区| 天干天干天啪啪夜爽爽av| 久久香蕉综合色一综合色88| 国产成人a无码短视频| 日本熟妇浓毛hdsex| 亚洲日韩精品一区二区三区无码| 国产偷国产偷亚洲清高孕妇|