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  4. Recombinant Human Dynein heavy chain 5, axonemal (DNAH5), partial

Recombinant Human Dynein heavy chain 5, axonemal (DNAH5), partial

  • 中文名称：
    人DNAH5重组蛋白
  • 货号：
    CSB-YP819476HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人DNAH5重组蛋白
  • 货号：
    CSB-EP819476HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人DNAH5重组蛋白
  • 货号：
    CSB-EP819476HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名称：
    人DNAH5重组蛋白
  • 货号：
    CSB-BP819476HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人DNAH5重组蛋白
  • 货号：
    CSB-MP819476HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    DNAH5
  • Uniprot No.：
    Q8TE73
  • 别名：
    axonemal; Axonemal beta dynein heavy chain 5; Ciliary dynein heavy chain 5; DNAH 5; Dnah5; DNAHC5; DYH5_HUMAN; Dynein heavy chain 5; Dynein heavy chain 5; axonemal; HL1; KIAA1603
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

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DNAH5 antibodies

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

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  • 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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