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  4. Recombinant Human Cytoplasmic dynein 2 heavy chain 1 (DYNC2H1), partial

Recombinant Human Cytoplasmic dynein 2 heavy chain 1 (DYNC2H1), partial

  • 中文名稱：
    人DYNC2H1重組蛋白
  • 貨號：
    CSB-YP818763HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人DYNC2H1重組蛋白
  • 貨號：
    CSB-EP818763HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人DYNC2H1重組蛋白
  • 貨號：
    CSB-EP818763HU-B
  • 規格：
  • 來源：
    E.coli
  • 共軛：
    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：
  • 中文名稱：
    人DYNC2H1重組蛋白
  • 貨號：
    CSB-BP818763HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人DYNC2H1重組蛋白
  • 貨號：
    CSB-MP818763HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    DYNC2H1
  • Uniprot No.：
  • 別名：
    Cytoplasmic dynein 2 heavy chain 1; Cytoplasmic dynein 2 heavy chain; DYHC2_HUMAN; DYNC2H1; Dynein cytoplasmic heavy chain 2; Dynein heavy chain 11; Dynein heavy chain isotype 1B; hDHC11
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    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.
  • 產品提供形式：
    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.
  • 復溶：
    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.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    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.
  • 貨期：
    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.
  • 注意事項：
    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.

產品評價

靶點詳情

  • 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.
  • 基因功能參考文獻：
    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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  • 相關疾病：
    Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)
  • 亞細胞定位：
    Cytoplasm, cytoskeleton, cilium axoneme. Cell membrane; Peripheral membrane protein. Cytoplasm.
  • 蛋白家族：
    Dynein heavy chain family
  • 數據庫鏈接：

    HGNC: 2962

    OMIM: 603297

    KEGG: hsa:79659

    STRING: 9606.ENSP00000381167

    UniGene: Hs.503721



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