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MYOT Antibody

  • 中文名稱:
    MYOT兔多克隆抗體
  • 貨號(hào):
    CSB-PA015364GA01HU
  • 規(guī)格:
    ¥3,900
  • 其他:

產(chǎn)品詳情

  • Uniprot No.:
  • 基因名:
    MYOT
  • 別名:
    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
  • 反應(yīng)種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human MYOT
  • 免疫原種屬:
    Homo sapiens (Human)
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity Purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式:
    Liquid
  • 應(yīng)用范圍:
    ELISA,WB,IHC
  • Protocols:
  • 儲(chǔ)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(píng)價(jià)

靶點(diǎn)詳情

  • 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.
  • 基因功能參考文獻(xiàn):
    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

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  • 相關(guān)疾病:
    Limb-girdle muscular dystrophy 1A (LGMD1A); Myopathy, myofibrillar, 3 (MFM3); Spheroid body myopathy (SBM)
  • 亞細(xì)胞定位:
    Cell membrane, sarcolemma. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line.
  • 蛋白家族:
    Myotilin/palladin family
  • 組織特異性:
    Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland.
  • 數(shù)據(jù)庫(kù)鏈接:

    HGNC: 12399

    OMIM: 159000

    KEGG: hsa:9499

    STRING: 9606.ENSP00000239926

    UniGene: Hs.84665



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