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DYNC2H1 Antibody

  • 货号：
    CSB-PA818763LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human testis tissue using CSB-PA818763LA01HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human small intestine tissue using CSB-PA818763LA01HU at dilution of 1:100
    • Immunofluorescent analysis of Hela cells using CSB-PA818763LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)
    • Western Blot
      Positive WB detected in Recombinant protein
      All lanes: DYNC2H1 antibody at 2.8µg/ml
      Secondary
      Goat polyclonal to rabbit IgG at 1/50000 dilution
      Predicted band size: 45 kDa
      Observed band size: 45 kDa
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) DYNC2H1 Polyclonal antibody
  • Uniprot No.：
    Q8NCM8
  • 基因名：
    DYNC2H1
  • 别名：
    Cytoplasmic dynein 2 heavy chain 1 antibody; Cytoplasmic dynein 2 heavy chain antibody; DYHC2_HUMAN antibody; DYNC2H1 antibody; Dynein cytoplasmic heavy chain 2 antibody; Dynein heavy chain 11 antibody; Dynein heavy chain isotype 1B antibody; hDHC11 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Cytoplasmic dynein 2 heavy chain 1 protein (1928-2065AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，DYNC2H1 Antibody (CSB-PA818763LA01HU)，的标记方式是Non-conjugated。对于DYNC2H1 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA818763LB01HU DYNC2H1 Antibody, HRP conjugated ELISA
    FITC CSB-PA818763LC01HU DYNC2H1 Antibody, FITC conjugated
    Biotin CSB-PA818763LD01HU DYNC2H1 Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, WB, IHC, IF
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:5000
    IHC 1:20-1:200
    IF 1:50-1:200
  • 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：
    May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells.
  • 基因功能参考文献：
    1. This is the first report of prenatal diagnosis of DYNC2H1 mutations causing Short-rib polydactyly syndrome (SRPS) Type III in a fetus with increased BPD associated with polyhydramnios in China. PMID: 29359448
    2. In all three cases, exome sequence analysis revealed compound heterozygosity for mutations in DYNC2H1, which encodes the main component of the retrograde IFT A motor, cytoplasmic dynein 2 heavy chain 1. Thus SRP type I, II, III and asphyxiating thoracic dystrophy (ATD), which also result from DYNC2H1 mutations. PMID: 27925158
    3. Compound heterozygous mutations in DYNC2H1 and ALOX15 were identified in miscarriages from two families with RPL. DYNC2H1 is involved in cilia biogenesis and has been associated with fetal lethality in humans. ALOX15 is expressed in placenta and its dysregulation has been associated with inflammation, placental, dysfunction, abnormal oxidative stress response and angiogenesis. PMID: 26826164
    4. next-generation panel sequencing identified novel mutations in the DYNC2H1 gene. The fetus was compound heterozygous for both a missense mutation c.8313A > T and a frameshift mutation c.10711_10714delTTTA in the DYNC2H1 gene, which were inherited from the mother and father, respectively PMID: 27323140
    5. Compound heterozygous mutation in DYNC2H1 gene is associated with severe short-rib polydactyly syndrome type III. PMID: 25410398
    6. Gene-based association analyses shows nominal significant association with multifocal fibromuscular dysplasia for cynein cytoplasmic heavy chain 1. PMID: 26147384
    7. a DYNC2H1 mutations causing SRPS III PMID: 25982780
    8. Partial depletion of giantin or of WDR34 leads to an increase in cilia length consistent with the concept that giantin acts through dynein-2. PMID: 24046448
    9. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. PMID: 23456818
    10. This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations. PMID: 22499340
    11. In an in vitro MT gliding assay, both dynein-1 and dynein-2 showed minus-end-directed motor activities. PMID: 21723285
    12. Semi-quantitative RT-PCR experiments with 6 of those genes confirmed higher expression of DNCH2, ARHGEF6, NPM1 and SRI and lower expression of NRGN and TM4SF2 in GBM tumors. PMID: 16320026
    13. short-rib polydactyly syndrome affected individuals were homozygous for an exon 12 missense mutation that predicted the amino acid substitution R587C PMID: 19361615
    14. ATD and SRP type III are variants of a single disorder belonging to the ciliopathy group. PMID: 19442771

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  • 相关疾病：
    Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)
  • 亚细胞定位：
    Cytoplasm, cytoskeleton, cilium axoneme. Cell membrane; Peripheral membrane protein. Cytoplasm.
  • 蛋白家族：
    Dynein heavy chain family
  • 数据库链接：

    HGNC: 2962

    OMIM: 603297

    KEGG: hsa:79659

    STRING: 9606.ENSP00000381167

    UniGene: Hs.503721