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NSDHL Recombinant Monoclonal Antibody

  • 中文名稱：
    NSDHL重組抗體
  • 貨號：
    CSB-RA843829A0HU
  • 規格：
    ￥1320
  • 圖片：
    • Western Blot
      Positive WB detected in: HepG2 whole cell lysate, Hela whole cell lysate, PC-3 whole cell lysate, HEK293 whole cell lysate
      All lanes: NSDHL antibody at 1:1000
      Secondary
      Goat polyclonal to rabbit IgG at 1/50000 dilution
      Predicted band size: 42 kDa
      Observed band size: 42 kDa
    • IHC image of CSB-RA843829A0HU diluted at 1:100 and staining in paraffin-embedded human testis tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a Goat anti-rabbit polymer IgG labeled by HRP and visualized using 0.05% DAB.
  • 其他：

產品詳情

  • 產品描述：
    CSB-RA843829A0HU NSDHL重組單克隆抗體是針對NAD(P)依賴性類固醇脫氫酶樣蛋白（NSDHL）研發的高特異性檢測工具。該靶標蛋白作為膽固醇生物合成途徑中C-4固醇脫羧酶復合物的關鍵組分，參與羊毛甾醇向膽固醇轉化的關鍵步驟，在細胞膜穩態維持和脂代謝調控中發揮重要作用。本抗體經多種實驗驗證，在Western Blot中可特異性識別內源性NSDHL蛋白，推薦工作濃度1:500-1:2000，顯示清晰的檢測信號且背景干擾低；在免疫組織化學應用中（推薦稀釋度1:50-1:200）能準確呈現蛋白在組織樣本中的亞細胞定位。其單克隆特性確保批次間高度一致性，適用于膽固醇代謝通路研究、脂質相關疾病模型構建及分子互作機制探索等科研領域，為研究膽固醇合成異常相關疾病的分子基礎提供可靠工具。
  • Uniprot No.：
  • 基因名：
    NSDHL
  • 別名：
    Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (EC 1.1.1.170) (Protein H105e3), NSDHL, H105E3
  • 反應種屬：
    Human
  • 免疫原：
    A synthesized peptide derived from human NSDHL
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    Non-conjugated
  • 克隆類型：
    Monoclonal
  • 抗體亞型：
    Rabbit IgG
  • 純化方式：
    Affinity-chromatography
  • 克隆號：
    20F2
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Rabbit IgG in 10mM phosphate buffered saline , pH 7.4, 150mM sodium chloride, 0.05% BSA, 0.02% sodium azide and 50% glycerol.
  • 產品提供形式：
    Liquid
  • 應用范圍：
    ELISA, WB, IHC
  • 推薦稀釋比：
    Application Recommended Dilution
    WB 1:500-1:2000
    IHC 1:50-1:200
  • Protocols：
  • 儲存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    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.

產品評價

靶點詳情

  • 功能：
    Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis. Plays also a role in the regulation of the endocytic trafficking of EGFR.
  • 基因功能參考文獻：
    1. Here we present the case of a 9-year-old Chinese girl born with the typical clinical features of CHILD syndrome. Evaluation of the skin lesions confirmed the diagnosis and led to identification of a heterozygous point mutation in exon 8 of the NSDHL gene. PMID: 26459993
    2. Our findings expand the spectrum of mutations in NSDHL in CHILD syndrome, and indicate that large exon deletions may be not rare. PMID: 26014843
    3. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome. PMID: 25900314
    4. human NSDHL protein and mouse Nsdhl mRNA were expressed in tissues synthesizing cholesterol and steroids and in all peripheral tissues affected by CHILD or CK syndromes. PMID: 22113624
    5. found that males with intellectual disability in another reported family with an NSDHL mutation (c.1098 dup [p.Arg367SerfsX33]) have CKS PMID: 21129721
    6. The missense mutation of the NSDHL gene is detected in CHILD syndrome. PMID: 19906044
    7. Lethality of Nsdhl deficient mouse embryos is rescued by transgenic mice expressing human Nsdhl. PMID: 19880419
    8. NAD(P)H steroid dehydrogenase-like protein is localized to lipid droplets PMID: 12837764
    9. NSDHL, an enzyme involved in cholesterol synthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets. PMID: 14506130
    10. microarray analysis of gene expression related to NSDHL sterol dehydrogenase in embryonic fibroblasts PMID: 15805545
    11. A novel missense mutation (R199H) in exon 6 of the NSDHL gene was identified in a small subset of sporadic verruciform xanthomas. PMID: 16230564
    12. NAD(P) dependent steroid dehydrogenase-like (NSDHL)-shRNA sequences were designed and tested for their effectiveness. PMID: 17498944

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  • 相關疾病：
    Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD); CK syndrome (CKS)
  • 亞細胞定位：
    Endoplasmic reticulum membrane; Single-pass membrane protein. Lipid droplet.
  • 蛋白家族：
    3-beta-HSD family
  • 組織特異性：
    Brain, heart, liver, lung, kidney, skin and placenta.
  • 數據庫鏈接：

    HGNC: 13398

    OMIM: 300275

    KEGG: hsa:50814

    STRING: 9606.ENSP00000359297

    UniGene: Hs.57698



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