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, FITC conjugated

  • 中文名稱:
    SH3TC2兔多克隆抗體, FITC偶聯(lián)
  • 貨號:
    CSB-PA819482LC01HU
  • 規(guī)格:
    ¥880
  • 其他:

產(chǎn)品詳情

  • 產(chǎn)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(yīng)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:
    FITC
  • 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(chǎn)品提供形式:
    Liquid
  • 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(chǎn)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(guān)疾病:
    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(shù)據(jù)庫鏈接:

    HGNC: 29427

    OMIM: 601596

    KEGG: hsa:79628

    STRING: 9606.ENSP00000423660

    UniGene: Hs.483784



主站蜘蛛池模板: 天天爱天天做久久狼狼| 无码精品久久久久久人妻中字| 18禁黄网站禁片无遮挡观看| 18禁精品久久久国产精品久久久| 漂亮人妻洗澡被公强 日日躁| 午夜熟女插插xx免费视频| 婷婷五月综合激情中文字幕| av无码国产精品色午夜| 中国熟妇人妻xxxxx| 无码人妻丰满熟妇啪啪| 国产欧美日韩一区2区| 中文资源在线天堂库8| 亚洲精品乱码久久久久久v| 久久久久久欧美精品se一二三四| 国产av成人精品播放| 亚州日本乱码一区二区三区| 色插图午夜影院| 亚洲性无码av中文字幕| 国产成人免费永久播放视频平台| 亚洲国产婷婷综合在线精品| 成熟丰满熟妇av无码区| 精品国产美女av久久久久| 日本人妻精品免费视频| 蜜臀精品无码av在线播放| 日韩人妻中文无码一区二区七区| 国产三级韩国三级日产三级| 日本乱码伦午夜福利在线| 最爽free性欧美人妖| 欲求不满邻居的爆乳在线播放| 成 人 网 站不卡在线观看| 狠狠色噜噜狠狠狠狠7777米奇| 国产精品久久精品国产| 亚洲高请码在线精品av| 18无码粉嫩小泬无套在线观看 | 午夜熟女插插xx免费视频| 国产在线精品无码二区| 天天躁夜夜躁狠狠综合2020| 中文无码av一区二区三区| 久章草在线精品视频免费观看| 私人家庭影院5777| 欧美做爰性生交视频|