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

Recombinant Human Desert hedgehog protein (DHH), partial (Active)

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  • 中文名稱：
    人DHH重組蛋白
  • 品名簡(jiǎn)稱：
    Recombinant Human DHH protein, partial (Active)
  • 貨號(hào)：
    CSB-AP000411HU
  • 說(shuō)明書(shū)：
  • 規(guī)格：
    ￥852
  • 圖片：
  • 其他：

產(chǎn)品詳情

  • 純度：
    >96% as determined by SDS-PAGE.
  • 內(nèi)毒素：
    Less than 1.0 EU/μg as determined by LAL method.
  • 生物活性：
    Fully biologically active when compared to standard. The ED50 as determined by its ability to induce alkaline phosphatase production by C3H10T1/2(CCL-226) cells is 15-45 μg/ml.
  • 基因名：
  • Uniprot No.：
  • 別名：
    C78960; Desert hedgehog (Drosophila) homolog; Desert hedgehog; Desert hedgehog homolog (Drosophila); Desert hedgehog protein C-product; Desert hedgehog protein precursor; DHH; DHH_HUMAN; GDXYM; HHG-3; Hira; SRXY7
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度：
    Partial
  • 來(lái)源：
    E.Coli
  • 分子量：
    19.9 kDa
  • 表達(dá)區(qū)域：
    24-198aa
  • 氨基酸序列
    II+GPGRGPVG RRRYARKQLV PLLYKQFVPG VPERTLGASG PAEGRVARGS ERFRDLVPNY NPDIIFKDEE NSGADRLMTE RCKERVNALA IAVMNMWPGV RLRVTEGWDE DGHHAQDSLH YEGRALDITT SDRDRNKYGL LARLAVEAGF DWVYYESRNH VHVSVKADNS LAVRAGG
  • 蛋白標(biāo)簽：
    Tag-Free
  • 產(chǎn)品提供形式：
    Liquid or Lyophilized powder
  • 緩沖液：
    0.2 μm filtered 10mM PB, pH 6.0, 300mM NaCl ,lyophilized
  • 儲(chǔ)存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)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：
    5-10 business days
  • Datasheet & COA：
    Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 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.
  • 基因功能參考文獻(xiàn)：
    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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  • 相關(guān)疾病：
    Partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD); 46,XY sex reversal 7 (SRXY7)
  • 亞細(xì)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
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 2865

    OMIM: 233420

    KEGG: hsa:50846

    STRING: 9606.ENSP00000266991

    UniGene: Hs.524382