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: 国产精品久久久久电影网| 欧美人牲口杂交在线播放免费| 亚洲国产成人无码av在线影院| 婷婷综合缴情亚洲| 亚洲视频一区| 一性一交一口添一摸视频 | 国产午夜精品一区二区| 国产精品刮毛| 亚洲国产超清无码专区| 内射白嫩少妇超碰| 强睡邻居人妻中文字幕| 亚洲精品国产精品制服丝袜| 永久免费无码av在线网站| 久久久国产乱子伦精品作者| 精品国产av色一区二区深夜久久| 饥渴少妇做私密保健视频| 免费无码成人av片在线在线播放 | 夜色福利院在线观看免费| 欧美黑人又粗又大xxx| 无码国产69精品久久久久网站| 菠萝蜜视频在线观看入口| 真人做受试看120分钟小视频 | 国产成人一区二区不卡免费视频| 久久精品一区二区三区四区| 在线亚洲精品国产一区麻豆| 少妇人妻综合久久中文| 青青草原综合久久大伊人精品 | 国产一区二区三区 韩国女主播 | 日韩人妻无码精品二专区| 亚洲女同一区二区| k频道国产在线观看| 大香伊蕉在人线免费视频| 337p日本欧洲亚洲大胆69影院| 亚洲精品乱码久久久久久蜜桃图片 | 688欧美人禽杂交狂配 | 亚洲欧洲日产国码无码av一| 国产精品福利视频萌白酱| 精品国产免费人成电影在线看| 草草地址线路①屁屁影院成人| 天堂在/线资源中文在线| 最近高清中文在线字幕在线观看1|