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NSDHL Antibody

  • 中文名稱:
    NSDHL兔多克隆抗體
  • 貨號:
    CSB-PA016101GA01HU
  • 規(guī)格:
    ¥3,900
  • 其他:

產(chǎn)品詳情

  • Uniprot No.:
  • 基因名:
    NSDHL
  • 別名:
    NSDHL; H105E3; Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; Protein H105e3
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human NSDHL
  • 免疫原種屬:
    Homo sapiens (Human)
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB,IHC
  • 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(chǎn)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(shù)據(jù)庫鏈接:

    HGNC: 13398

    OMIM: 300275

    KEGG: hsa:50814

    STRING: 9606.ENSP00000359297

    UniGene: Hs.57698



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