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

  1. 首頁
  2. 蛋白
  3. 重組蛋白
  4. Recombinant Human SH3 domain and tetratricopeptide repeat-containing protein 2 (SH3TC2), partial

Recombinant Human SH3 domain and tetratricopeptide repeat-containing protein 2 (SH3TC2), partial

  • 中文名稱：
    人SH3TC2重組蛋白
  • 貨號：
    CSB-YP819482HU
  • 說明書：
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人SH3TC2重組蛋白
  • 貨號：
    CSB-EP819482HU
  • 說明書：
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人SH3TC2重組蛋白
  • 貨號：
    CSB-EP819482HU-B
  • 說明書：
  • 規格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    人SH3TC2重組蛋白
  • 貨號：
    CSB-BP819482HU
  • 說明書：
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人SH3TC2重組蛋白
  • 貨號：
    CSB-MP819482HU
  • 說明書：
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    SH3TC2
  • Uniprot No.：
  • 別名：
    CMT4C; D430044G18Rik; FLJ13605; KIAA1985; MNMN; PP12494; RGD1309038; S3TC2_HUMAN; SH3 domain and tetratricopeptide repeats-containing protein 2; SH3TC2
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產品提供形式：
    Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

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.
  • 數據庫鏈接：

    HGNC: 29427

    OMIM: 601596

    KEGG: hsa:79628

    STRING: 9606.ENSP00000423660

    UniGene: Hs.483784



主站蜘蛛池模板： 粗大的内捧猛烈进出| 人妻有码av中文字幕久久琪| 天天爽天天爽夜夜爽毛片| 国产成人综合欧美精品久久| 精品国产一区二区三区四区精华液| 精品国精品自拍自在线| 麻豆丰满少妇chinese| 欧美人与动性行为视频| 国产精品久久久久影院色 | 好想被狂躁无码视频在线观看| 成人性生交大免费看| 777久久精品一区二区三区无码| 大学生高潮无套内谢视频| 夜色福利院在线观看免费| 国产精品高潮呻吟av久久| 人妻熟女久久久久久久| 精品精品国产高清a毛片| 欧美不卡一区二区三区| 精品久久久久久无码中文字幕一区| 火箭视频在线观看精品| 野外被强j到高潮免费观看| 无遮挡十八禁污污污网站| 久久aaaa片一区二区| 怡春院国产精品视频| 久久婷婷五月综合色俺也想去| 涩欲国产一区二区三区四区| 精品人妻系列无码人妻漫画| 免费人成视频在线| 老司机久久精品最新免费| 亚洲精品专区成人网站| 内射爽无广熟女亚洲| 中文乱码字慕人妻熟女人妻| 久久香蕉国产线看观看怡红院妓院| 日本亚洲欧美在线视观看| 国产亚洲色欲色一色www| 免费人成视频19674不收费| 国产精品美女久久久久久2018 | 国产男女猛烈视频在线观看| 蜜臀av色欲a片无码一区二区| 午夜精品一区二区三区免费视频| 又爽又黄无遮拦成人网站|