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

  • 中文名稱:
    SH3TC2兔多克隆抗體
  • 貨號:
    CSB-PA060155
  • 規格:
    ¥1090
  • 其他:

產品詳情

  • 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:
    Synthesized peptide derived from the Internal region of Human SH3TC2.
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated
  • 抗體亞型:
    IgG
  • 純化方式:
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    IHC, ELISA
  • 推薦稀釋比:
    Application Recommended Dilution
    IHC 1:100-1:300
    ELISA 1:40000
  • 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: 色一情一乱一乱一区99av白浆| 国产八十老太另类| 亚洲综合欧美在线一区在线播放| 国语自产偷拍精品视频偷| 女人与拘性猛交视频| 性色a∨人人爽网站hdkp885| 国语自产拍在线观看对白| 亚洲高清毛片一区二区| 国产97色在线 | 免| 亚洲国产成人精品无码区在线秒播 | 性少妇无码播放| 强行糟蹋人妻hd中文| 久久高清内射无套| 久久久久国色av免费看图片| 亚洲图片小说激情综合| 大地资源中文第三页| 久久精品无码一区二区日韩av| 在线v片免费观看视频| 高潮迭起av乳颜射后入| 蜜臀av无码人妻精品| 色综合色欲色综合色综合色综合r| 国产美女口爆吞精普通话| 奶头好大狂揉60分钟视频| 精品一区精品二区制服| 欧美熟妇与小伙性欧美交| 玩弄放荡人妻少妇系列| 妺妺窝人体色www婷婷| 高清国产亚洲精品自在久久| 亚洲精品在看在线观看| 成人女人看片免费视频放人| 亚州少妇无套内射激情视频| 一本大道久久香蕉成人网| 婷婷伊人五月尤物| 亚洲精品第一国产综合野草社区 | 亚洲处破女av日韩精品波波网| 少妇极品熟妇人妻200片| 四虎国产精品免费久久久| 日本丰满熟妇videos| 欧美大屁股流白浆xxxx| 少妇人妻久久无码专区| 久久婷婷五月综合97色|