Your Good Partner in Biology Research

  1. Home
  2. 抗体
  3. 多克隆抗体
  4. MYOT Antibody

MYOT Antibody

  • 货号：
    CSB-PA015364DSR2HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human lung cancer using CSB-PA015364DSR2HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human skeletal muscle tissue using CSB-PA015364DSR2HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) MYOT Polyclonal antibody
  • Uniprot No.：
    Q9UBF9
  • 基因名：
    MYOT
  • 别名：
    57 kDa cytoskeletal protein antibody; LGMD 1 antibody; LGMD1 antibody; Myofibrillar titin like Ig domains protein antibody; Myofibrillar titin-like Ig domains protein antibody; Myot antibody; MYOTI_HUMAN antibody; Myotilin antibody; Titin immunoglobulin domain protein antibody; TTID antibody; TTID protein antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Myotilin protein (443-498AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 克隆类型：
    Polyclonal
  • 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, pH7.3.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
  • 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 a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.
  • 基因功能参考文献：
    1. sequence conservation analysis of myotilin shed light on the molecular basis of myotilinopathies and revealed several motifs in Ig domains found also in I-band proteins. PMID: 28638118
    2. A French family affected with a late onset proximal and distal muscle weakness and myofibrillar myopathy on muscle pathology, in which the siblings known to be clinically affected were homozygous for the c.179C>T (p.Ser60Phe) myotilin gene mutation is reported. PMID: 27854214
    3. Describe the first homozygous mutation in the myotilin gene leading to a novel, autosomal recessive subtype of myofibrillar myopathy (MFM). PMID: 24928145
    4. Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations PMID: 21361873
    5. A second known pedigree with LGMD1A: this finding constitutes a gold standard of proof that mutations in the myotilin gene cause Limb-Girdle Muscular Dystrophy 1A PMID: 12428213
    6. Myotilin a thin filament-associated Z-disc protein.It binds to alpha-actinin and filamin c and is mutated in limb girdle muscular dystrophy 1A (LGMD1A).myotilin binds F-actin and prevents filament disassembly induced by Latrunculin A PMID: 12499399
    7. Mutations in myotilin cause MFM; exon 2 of MYOT is a hotspot for mutations; peripheral neuropathy, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy; not all cases have a limb-girdle phenotype PMID: 15111675
    8. Our findings provide evidence for a novel connection between the Z-disc protein myotilin and the sarcolemma via filamins and beta1 integrins. PMID: 16076904
    9. The function of the myotilin protein is studied with regards its actin-organizing properties. PMID: 16122733
    10. A novel mutation in the myotilin gene results in the clinical and pathologic phenotype termed "spheroid body myopathy." Mutations in this gene also cause limb-girdle muscular dystrophy 1A and are associated with myofibrillar myopathy. PMID: 16380616
    11. Mutations within the MYOT gene are not a cause for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM). PMID: 16674563
    12. multigenerational French family in which gene sequencing identified a S60F myotilin mutation in all patients with full penetrance despite very late onset PMID: 16793270
    13. Myotilin mutations promote aggregate-dependent contractile dysfunction similar to Limb-girdle Muscular Dystrophy type 1A and Myofibrillar Myopathy. PMID: 16801328
    14. Myotilin S55F mutations may cause a clinically distinct autosomal-dominant late-onset and lower-limb distal myopathic syndrome. MRI helps to depict the topography of fatty muscle atrophy and to detect gene mutation carriers. PMID: 17698502
    15. new autosomal dominant kindred with generalized symmetrical increase in muscle bulk PMID: 19027924
    16. This is the first report of a binding motif common to both the myotilin and the FATZ (calsarcin/myozenin) families that is specific for interactions with Enigma family members. PMID: 19047374
    17. Data show that in myofibrillar myopathies myotilin exhibites significant alterations in their localization. PMID: 19151983
    18. study presents high-resolution structure of the first Ig-domain of myotilin determined with solution state NMR spectroscopy; structure of MyoIg1 exhibits I-type Ig-fold PMID: 19418025
    19. identified a novel MYOT mutation in Exon 9 encoding the second immunoglobulin-like domain in 1 patient with clinically typical limb girdle muscular dystrophy PMID: 19458539

    显示更多

    收起更多

  • 相关疾病：
    Limb-girdle muscular dystrophy 1A (LGMD1A); Myopathy, myofibrillar, 3 (MFM3); Spheroid body myopathy (SBM)
  • 亚细胞定位：
    Cell membrane, sarcolemma. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line.
  • 蛋白家族：
    Myotilin/palladin family
  • 组织特异性：
    Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland.
  • 数据库链接：

    HGNC: 12399

    OMIM: 159000

    KEGG: hsa:9499

    STRING: 9606.ENSP00000239926

    UniGene: Hs.84665