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  4. PIGN Antibody, FITC conjugated

PIGN Antibody, FITC conjugated

  • 中文名稱：
    PIGN兔多克隆抗體, FITC偶聯(lián)
  • 貨號(hào)：
    CSB-PA017977LC01HU
  • 規(guī)格：
    ￥880
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) PIGN Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    PIGN
  • 別名：
    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
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human GPI ethanolamine phosphate transferase 1 protein (27-181AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標(biāo)記方式：
    FITC
  • 克隆類型：
    Polyclonal
  • 抗體亞型：
    IgG
  • 純化方式：
    >95%, Protein G purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 產(chǎn)品提供形式：
    Liquid
  • 儲(chǔ)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(píng)價(jià)

靶點(diǎn)詳情

  • 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.
  • 基因功能參考文獻(xiàn)：
    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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  • 相關(guān)疾?。?/div>
    Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1)
  • 亞細(xì)胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein.
  • 蛋白家族：
    PIGG/PIGN/PIGO family, PIGN subfamily
  • 數(shù)據(jù)庫鏈接：

    HGNC: 8967

    OMIM: 606097

    KEGG: hsa:23556

    STRING: 9606.ENSP00000350263

    UniGene: Hs.157031