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MYPN Antibody

  • 货号：
    CSB-PA015378GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q86TC9
  • 基因名：
    MYPN
  • 别名：
    145 kDa sarcomeric protein antibody; MYOP antibody; Myopalladin antibody; MYPN antibody; MYPN_HUMAN antibody; sarcomeric protein myopalladin antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human MYPN-Specific
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 功能：
    Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines.
  • 基因功能参考文献：
    1. Targeted sequencing revealed trigenic mutations: c.700G>A/p.E234K in DES, c.2966G>A/p.R989H in MYPN, and c.5918G>C/p.R1973P in CACNA1C in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome. PMID: 28427417
    2. Homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. PMID: 28220527
    3. results suggest that MYPN screening should be considered in individuals with mild nemaline myopathy, especially when cardiac problems or intranuclear rods are present PMID: 28017374
    4. Heterozygote Mypn(WT/Q526X) knock-in mice develop RCM due to persistence of mutant Mypn(Q526X) protein in the nucleus. PMID: 25541130
    5. the clinical significance of myopalladin for the functional integrity of the sarcomeric apparatus and the protection against dilated cardiomyopathy PMID: 22892539
    6. Two nonsense and 13 missense MYPN variants were identified in subjects with hypertrophic, dilated and/or restrictive cardiomyopathy. PMID: 22286171
    7. mutations in PDLIM3 and MYPN are infrequent in hypertrophic cardiomyopathies PMID: 20801532
    8. myopalladin plays a signaling role in targeting and orienting nebulin during sarcomere assembly PMID: 12482578
    9. myopalladin gene is a new gene associated with dilated cardiomyopathy and observed mutations in 3-4% of cases in a population. of European descent. PMID: 18006477

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  • 相关疾病：
    Nemaline myopathy 11 (NEM11); Cardiomyopathy, dilated 1KK (CMD1KK); Cardiomyopathy, familial hypertrophic 22 (CMH22); Cardiomyopathy, familial restrictive 4 (RCM4)
  • 亚细胞定位：
    Cytoplasm. Nucleus. Cytoplasm, myofibril, sarcomere. Cytoplasm, myofibril, sarcomere, Z line.
  • 蛋白家族：
    Myotilin/palladin family
  • 组织特异性：
    Expressed in adult skeletal muscle and fetal heart.
  • 数据库链接：

    HGNC: 23246

    OMIM: 608517

    KEGG: hsa:84665

    STRING: 9606.ENSP00000351790

    UniGene: Hs.55205