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: 亚洲欧洲av一区二区久久| 国产成人无码专区| 波多野结衣美乳人妻hd电影欧美| 一区二区三区中文字幕| 国产激情久久久久影院小草| 亚洲va在线va天堂xxxx| 欧美xxxx做受欧美人妖| 草色噜噜噜av在线观看香蕉| 尤物yw193无码点击进入| 国产在线观看超清无码视频一区二区 | 婷婷丁香六月激情综合在线人| 午夜三级a三级三点| 久久久久亚洲精品成人网| 欧美成人猛片aaaaaaa| 国产精品乱码人妻一区二区三区| 男插女高潮一区二区| 亚洲丰满熟妇在线播放电影全集 | 大乳丰满人妻中文字幕日本| 亚洲欧洲日产国码在线| 久欠精品国国产99国产精2021| 嫩草伊人久久精品少妇av| 国产女人高潮叫床视频| 无码国内精品人妻少妇| 99视频精品全部免费免费观看| 2020久热爱精品视频在线观看| 久久精品国产亚洲精品| 久久av无码aⅴ高潮av喷吹| 国产成人精品999视频| 伊人成色综合网| 日韩一区二区在线观看视频| 国产色青青视频在线观看撒| 强行从后面挺进人妻| 蜜臀精品无码av在线播放| 成年女人a毛片免费视频| 国产在线欧美日韩精品一区| 国产精品嫩草影院入口一二三| 亚洲 欧美日韩 综合 国产| 亚洲成在人线免费观看| 丰满少妇人妻hd高清大乳在线| 久久精品国产精品亚洲毛片| 国产亚洲日韩在线三区|