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  4. DNAH5 Antibody, FITC conjugated

DNAH5 Antibody, FITC conjugated

说明书
  • 中文名称：
    DNAH5兔多克隆抗体, FITC偶联
  • 货号：
    CSB-PA819476LC01HU
  • 规格：
    ￥880
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) DNAH5 Polyclonal antibody
  • Uniprot No.：
    Q8TE73
  • 基因名：
    DNAH5
  • 别名：
    axonemal antibody; Axonemal beta dynein heavy chain 5 antibody; Ciliary dynein heavy chain 5 antibody; DNAH 5 antibody; Dnah5 antibody; DNAHC5 antibody; DYH5_HUMAN antibody; Dynein heavy chain 5 antibody; Dynein heavy chain 5; axonemal antibody; HL1 antibody; KIAA1603 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Dynein heavy chain 5, axonemal protein (2364-2560AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    FITC
  • 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
  • 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.
  • 用途：
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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DNAH5 antibodies

DNAH5 Proteins

靶点详情

  • 功能：
    Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.
  • 基因功能参考文献：
    1. A novel mutation causing primary ciliary dyskinesia was found in Japanese patients. PMID: 28939216
    2. to the best of our knowledge, the first reported case of PCD caused by the DNAH5 mutation in a Japanese patient. PMID: 27779714
    3. These findings demonstrated that new DNAH5 mutations could be used for molecular diagnosis of Kartagener syndrome, providing families with genetic counseling and prenatal diagnosis. PMID: 27988889
    4. The mutation of p.Glu2610Gly in DNAH5 is novel. PMID: 24912412
    5. In chronic obstructive pulmonary disease, total lung capacity was associated with a SNP in DNAH5. PMID: 25134640
    6. A novel mutation in DNAH5 (c. 8030G>A) is identified in a Han Chinese family with chronic rhinosinusitis and primary ciliary dyskinesia. PMID: 24150548
    7. DNAH5 (rs2277046) is associated with single nucleotide polymorphisms in Korean patients, either non-segmental or segmental type. PMID: 23678272
    8. DNAH5 is the cause of primary ciliary dyskinesia in two siblings in a nuclear family as identified by whole genome sequencing. PMID: 20220176
    9. immunofluorescence studies of respiratory epithelial cells with secondary ciliary dyskinesia identified in vitro and in vivo normal axonemal DNAH5 localization PMID: 16492982
    10. DNAH5 is frequently mutated in patients with primary ciliary dyskinesia exhibiting outer dynein arm defects and mutations cluster in five exons. PMID: 16627867
    11. Male carriers of the mutations always exhibit asthenozoospermia, whereas female carriers manifest no alterations in either fertility or pulmonary clearance. PMID: 18492703
    12. Two dynein genes, encoding ODA intermediate chain (DNAI1) and heavy chain (DNAH5), have been seen to be mutated in approximately 30-38% of the families PMID: 19300264
    13. Although genetic alterations remain to be identified in most patients, DNAH5 is to date the main PCD gene. PMID: 19357118
    14. Two "major" genes, DNAI1 and DNAH5, underlie PCD in nearly half of the patients with ODA defects PMID: 19410201

    收起更多

  • 相关疾病：
    Ciliary dyskinesia, primary, 3 (CILD3)
  • 亚细胞定位：
    Cytoplasm, cytoskeleton, cilium axoneme.
  • 蛋白家族：
    Dynein heavy chain family
  • 组织特异性：
    Expressed in airway epithelial cells (at protein level). Not detected in spermatozoa (at protein level).
  • 数据库链接：

    HGNC: 2950

    OMIM: 603335

    KEGG: hsa:1767

    STRING: 9606.ENSP00000265104

    UniGene: Hs.212360

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