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PIGN Antibody

  • 货号：
    CSB-PA017977LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • IHC image of CSB-PA017977LA01HU diluted at 1:200 and staining in paraffin-embedded human endometrial cancer 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 biotinylated secondary antibody and visualized using an HRP conjugated SP system.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) PIGN Polyclonal antibody
  • Uniprot No.：
    O95427
  • 基因名：
    PIGN
  • 别名：
    PIGN antibody; MCD4 antibody; GPI ethanolamine phosphate transferase 1 antibody; EC 2.-.-.- antibody; MCD4 homolog antibody; Phosphatidylinositol-glycan biosynthesis class N protein antibody; PIG-N antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human GPI ethanolamine phosphate transferase 1 protein (27-181AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，PIGN Antibody (CSB-PA017977LA01HU)，的标记方式是Non-conjugated。对于PIGN Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA017977LB01HU PIGN Antibody, HRP conjugated ELISA
    FITC CSB-PA017977LC01HU PIGN Antibody, FITC conjugated
    Biotin CSB-PA017977LD01HU PIGN Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:200-1:500
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 功能：
    Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor. May act as suppressor of replication stress and chromosome missegregation.
  • 基因功能参考文献：
    1. Loss of function PIGN alleles causes Fryns syndrome. Founder effect for PIGN intragenic deletion is observed in La Reunion and other Indian Ocean islands. PMID: 29330547
    2. PIGN is a novel biomarker of CIN and leukemic transformation/progression in a subgroup of patients with MDS or AML-MRC. PMID: 28187452
    3. Study reports compound heterozygous mutations in PIGN in two siblings with Fryns syndrome, and a homozygous mutation in an unrelated affected individual. However, two further individuals with Fryns syndrome did not carry mutations in this gene, suggesting genetic heterogeneity in this syndrome. PMID: 27038415
    4. Disease associated mutation L311W reduces enzymatic activity rather than affecting protein levels. PMID: 28327575
    5. PIGN-1/PIGN is required for quality control in Caenorhabditis elegans and in mammalian cells. PMID: 27980068
    6. PIGN mutation is associated with multiple congenital anomalies hypotonia seizures syndrome related epilepsy. PMID: 26394714
    7. The mutated PIGN caused a significant decrease of the overall glycosylphoshatidylinositol-anchored proteins and CD24 expression which is sufficient to cause severe phenotypic expression. PMID: 26364997
    8. Findings confirm that developmental delay, hypotonia, and epilepsy combined with congenital anomalies are common phenotypes of PIGN mutations and add progressive cerebellar atrophy to this clinical spectrum. PMID: 24253414
    9. PIGN encodes phosphatidylinositol-glycan biosynthesis class N protein. PMID: 22876578
    10. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. PMID: 21493957

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  • 相关疾病：
    Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein.
  • 蛋白家族：
    PIGG/PIGN/PIGO family, PIGN subfamily
  • 数据库链接：

    HGNC: 8967

    OMIM: 606097

    KEGG: hsa:23556

    STRING: 9606.ENSP00000350263

    UniGene: Hs.157031