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  4. Recombinant Human Desert hedgehog protein (DHH), partial

Recombinant Human Desert hedgehog protein (DHH), partial

In Stock
  • 中文名称：
    人DHH重组蛋白
  • 货号：
    CSB-EP006851HU1
  • 规格：
    ￥1536
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    DHH
  • Uniprot No.：
    O43323
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 来源：
    E.coli
  • 分子量：
    42.6 kDa
  • 表达区域：
    51-158AA
  • 氨基酸序列
    GVPERTLGASGPAEGRVARGSERFRDLVPNYNPDIIFKDEENSGADRLMTERCKERVNALAIAVMNMWPGVRLRVTEGWDEDGHHAQDSLHYEGRALDITTSDRDRNK
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-GST-tagged and C-terminal Myc-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
  • 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：
    3-7 business days
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

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靶点详情

  • 功能：
    Intercellular signal essential for a variety of patterning events during development. May function as a spermatocyte survival factor in the testes. Essential for testes development.
  • 基因功能参考文献：
    1. Whole-exome sequencing revealed a homozygous variant in DHH leading to the p.Trp173Cys substitution. The relevant Trp residue is conserved, and its alteration was predicted to be deleterious. Molecular dynamics simulations showed that the mutation increases the conformational flexibility of the protein PMID: 28708305
    2. Single nucleotide polymorphism in the DHH gene is associated with bipolar disorder. PMID: 25517604
    3. Mutations in DHH play a role in 46,XY gonadal dysgenesis and are associated with seminoma formation and a neuropathy with minifascicle formation. PMID: 25927242
    4. Findings are unprecedented and indicate that the DHH-RHEBL1 fusion transcript is a novel recurrent feature in the changing landscape of CBFA2T3-GLIS2-positive childhood AML. PMID: 24127550
    5. Mutations in DHH are associated with 46,XY pure gonadal dysgenesis and mixed gonadal dysgenesis. PMID: 23786321
    6. This study demonistrated that Desert hedgehog links transcription factor Sox10 to peripheral nerve development. PMID: 22514309
    7. Studies indicate that pathways of Hedgehog (Hh), Wnt and Notch, which regulate development during embryonic life and somatic stem cells (SCs) in the adult organism, can be reactivated in malignancies and support tumor-initiating cells (TIC) scompartment. PMID: 22123293
    8. Two cases have been described in Indian patients with 46,XY complete gonadal dysgenesis that could be attributable to mutations in the Desert hedgehog (DHH) gene leading to non-functional DHH protein. PMID: 21816240
    9. We found no significant correlation between the expression of SOX9 and desert hedgehog, and neither SOX9 nor desert hedgehog expression was correlated to the histoprognostic grade in sarcomas. PMID: 21193222
    10. These data demonstrate that DHH is a key molecule in both male gonadal differentiation and perineurial formation in peripheral nerves PMID: 11990454
    11. Importance of DHH in mammalian male sexual differentiation, providing extended evidence that DHH constitutes a key gene in gonadal differentiation PMID: 16390857
    12. its signal transduction regulates tumor development. (review) PMID: 18788453
    13. Hh signaling is important in the pathogenesis of B-CLL and, hence, may be a potential therapeutic target PMID: 19074837

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  • 相关疾病：
    Partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD); 46,XY sex reversal 7 (SRXY7)
  • 亚细胞定位：
    [Desert hedgehog protein N-product]: Cell membrane; Lipid-anchor; Extracellular side.; [Desert hedgehog protein C-product]: Secreted, extracellular space.
  • 蛋白家族：
    Hedgehog family
  • 数据库链接：

    HGNC: 2865

    OMIM: 233420

    KEGG: hsa:50846

    STRING: 9606.ENSP00000266991

    UniGene: Hs.524382

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