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

SH3TC2 Antibody, HRP conjugated

  • 中文名稱:
    SH3TC2兔多克隆抗體, HRP偶聯
  • 貨號:
    CSB-PA819482LB01HU
  • 規(guī)格:
    ¥880
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) SH3TC2 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    SH3TC2
  • 別名:
    CMT4C antibody; D430044G18Rik antibody; FLJ13605 antibody; KIAA1985 antibody; MNMN antibody; PP12494 antibody; RGD1309038 antibody; S3TC2_HUMAN antibody; SH3 domain and tetratricopeptide repeats-containing protein 2 antibody; SH3TC2 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human SH3 domain and tetratricopeptide repeat-containing protein 2 protein (188-427AA)
  • 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

  • 基因功能參考文獻:
    1. SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese Charcot-Marie-Tooth (CMT) patients. PMID: 29336362
    2. In this series of undiagnosed CMT4 patients, SH3TC2 mutation frequency is 30%, confirming that CMT4C may be the most common AR-CMT type. PMID: 27231023
    3. Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive demyelinating form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH3TC2. PMID: 27882734
    4. A homozygous missense mutation c.1894G>A of SH3TC2 is associated with Charcot-Marie-Tooth disease type 4C. PMID: 26829735
    5. DNA sequence analysis in a French-Canadian family revealed a novel combination of 2 known recessive mutations, p.R904X and p.R954X, in the SH3TC2 gene. PMID: 25737037
    6. SH3TC2 is regulated by the transcription factors CREB and SOX10, define a regulatory SNP at this disease-associated locus and reveal SH3TC2 as a candidate modifier locus of CMT disease phenotypes. PMID: 24833716
    7. Data indicate that the most frequent form is SH3TC2 gene (CMT4C; 57.14%), followed by HK1 gene causative of CMT4G (CMT4G/HMSN-Russe 25%) and NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom; 17.86%). PMID: 22978647
    8. Mutations in the SH3TC2 gene are a frequent cause of HMSN I in Czech patients. PMID: 21291453
    9. This study presented evidence that mutations c.279G --> A and c.3676-8G -->A in the SH3TC2 gene cause aberrant splicing and are therefore pathogenic and causal for CMT4C. PMID: 22950825
    10. Mistargeting of SH3TC2 away from the recycling endosome is the fundamental molecular defect that leads to Charcot-Marie-Tooth disease type 4C. PMID: 20028792
    11. Missense mutations in the SH3TC2 causing Charcot-Marie-Tooth disease type 4C affect its localization to plasma membrane. PMID: 19744956
    12. mutations in an uncharacterized transcript, KIAA1985, in 12 families with autosomal recessive neuropathy PMID: 14574644
    13. a founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes PMID: 16326826
    14. the SH3TC2 p.R1109X mutation is associated with a conserved haplotype and, therefore, may be a private founder mutation for the Gypsy population PMID: 17470135
    15. Linkage analysis confirmed that all families are linked to CMT4C locus on chromosome 5q32 (multipoint LOD score of 9.06). Haplotype analysis suggests that two SH3TC2 mutations are present in this cohort PMID: 18511281
    16. Structural alterations to the SH3TC2 gene could possibly predispose to peripheral nerve inflammation. PMID: 19272779
    17. This paper presents an analysis of the SH3TC2 promoter after identifying a read-through transcript of the SH3TC2 and HTR4 loci. Available data suggests HTR4 is a separate locus with its own promoter, and not the product of a bi-cistronic transcript. PMID: 11716477

    顯示更多

    收起更多

  • 相關疾?。?/div>
    Charcot-Marie-Tooth disease 4C (CMT4C); Mononeuropathy of the median nerve mild (MNMN)
  • 組織特異性:
    Strongly expressed in brain and spinal cord. Expressed at equal level in spinal cord and sciatic nerve. Weakly expressed in striated muscle.
  • 數據庫鏈接:

    HGNC: 29427

    OMIM: 601596

    KEGG: hsa:79628

    STRING: 9606.ENSP00000423660

    UniGene: Hs.483784



主站蜘蛛池模板: 99re热这里只有精品视频| 国产亚洲人成无码网在线观看| 久久不见久久见免费视频1′| 日韩精品 中文字幕 视频在线| 天堂在线中文| 少妇放荡的呻吟干柴烈火动漫| 亚洲va综合va国产产va中文| 午夜男女无遮掩免费视频| 无码一区二区三区av在线播放| 亚洲成av人无码综合在线观看| 男人和女人高潮免费网站| 国产精品人妻久久毛片| 国产日产欧产美韩系列麻豆| 中文字幕人妻丝袜成熟乱| 草的我好爽视频| 亚洲乱亚洲乱少妇无码99p| 国产色播av在线观看| 欧美人与禽zozzo性伦交| 公与淑婷厨房猛烈进出视频免费| 蜜臀av性久久久久蜜臀aⅴ| 亚洲欧美国产精品久久久久久久| 99久久精品精品6精品精品 | 137肉体摄影日本裸交| 中文亚洲欧美日韩无线码 | 国产欠欠欠18一区二区| 国产成人精品.视频| 中美日韩毛片免费播放| 亚洲精品久久久久久中文传媒| 8x8ⅹ在线永久免费入口| 丰满岳乱妇在线观看中字| 18禁美女黄网站色大片在线| 亚洲一区av无码专区在线观看| 亚洲精品成人无限看| 国产天美传媒性色av出轨| 国产成人亚洲精品无码青青草原| 日韩电影一区二区三区| 插我舔内射18免费视频| 亚洲国产精品一区二区手机| 亚洲精品久久久久午夜福利 | 亚洲精品第一区二区三区| 中文久久乱码一区二区|