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MYH14 Antibody

  • 货号：
    CSB-PA198864
  • 规格：
    ￥2024
  • 图片：
    • Western blot analysis of extracts from 293 cells, using MYH14 antibody.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) MYH14 Polyclonal antibody
  • Uniprot No.：
    Q7Z406
  • 基因名：
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Synthesized peptide derived from internal of Human MYH14.
  • 免疫原种属：
    Homo sapiens (Human)
  • 克隆类型：
    Polyclonal
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:3000
  • 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：
    Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.
  • 基因功能参考文献：
    1. This is the first identification of mutations in MYH14 as a cause of Anorectal malformations. PMID: 28191911
    2. By reporting two novel variants of MYH14, we suggest that the present study extends the phenotypic spectrum of autosomal dominant MYH14 variants to include nonsyndromic, severe-to-profound hearing loss with prelingual onset. PMID: 28221712
    3. phosphorylation of human cardiac myosin regulatory light chain prevents development of hypertrophic cardiomyopathy in mice PMID: 26124132
    4. The data show that although NM IIA and IIB form filaments with similar properties, NM IIC forms filaments that are less well suited to roles such as tension maintenance within the cell. PMID: 24072716
    5. Results support the hypothesis that there is another DFNA gene upstream of the MYH14 gene and it may be linked to the DFNA4 locus. PMID: 23273769
    6. the alterations of the MYH14 gene may contribute to Myotonic dystrophy type 1 molecular pathogenesis. PMID: 21872659
    7. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14 PMID: 21480433
    8. kinetic and functional characterization of the motor domains of human nonmuscle myosin-2C isoforms PMID: 21478157
    9. data identify CEACAM16 as an alpha-tectorin-interacting protein that concentrates at the point of attachment of the TM to the stereocilia and, when mutated, results in ADNSHL at the DFNA4 locus PMID: 21368133
    10. Mutation in MYH14 gene can cause dominant non-syndromic hearing impairment in Asian population, suggesting that MYH14 gene can be a disease-causing gene of Chinese patients with hearing impairment. PMID: 20533261
    11. mutational screening in a large series of 300 hearing-impaired patients from Italy, Spain, and Belgium and in a German kindred linked to DFNA4 PMID: 15015131
    12. mutations and alternative splicing alter the enzymatic and motile activity of nonmuscle myosins II-B and II-C PMID: 15845534
    13. data do not support the involvement of MYH14 in cleft lip and palate among the Italian population PMID: 18471249
    14. the alternatively spliced isoform of non-muscle myosin II-C is not regulated by myosin light chain phosphorylation PMID: 19240025

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  • 相关疾病：
    Deafness, autosomal dominant, 4A (DFNA4A); Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH)
  • 蛋白家族：
    TRAFAC class myosin-kinesin ATPase superfamily, Myosin family
  • 组织特异性：
    High levels of expression are found in brain (highest in corpus callosum), heart, kidney, liver, lung, small intestine, colon and skeletal muscle. Expression is low in organs composed mainly of smooth muscle, such as aorta, uterus and urinary bladder. No
  • 数据库链接：

    HGNC: 23212

    OMIM: 600652

    KEGG: hsa:79784

    STRING: 9606.ENSP00000262269

    UniGene: Hs.467142