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  4. NAGPA Antibody, Biotin conjugated

NAGPA Antibody, Biotin conjugated

  • 中文名稱：
    NAGPA兔多克隆抗體, Biotin偶聯
  • 貨號：
    CSB-PA015417LD01HU
  • 規格：
    ￥880
  • 其他：

產品詳情

  • 產品名稱：
    Rabbit anti-Homo sapiens (Human) NAGPA Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    NAGPA
  • 別名：
    Mannose 6-phosphate-uncovering enzyme antibody; N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase antibody; NAGPA antibody; NAGPA_HUMAN antibody; Phosphodiester alpha-GlcNAcase antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human
  • 免疫原：
    Recombinant Human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase protein (327-438AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    Biotin
  • 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
  • 產品提供形式：
    Liquid
  • 應用范圍：
    ELISA
  • 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 second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases.
  • 基因功能參考文獻：
    1. 14 variations were found in GNPTAB, GNPTG and NAGPA genes. PMID: 29289611
    2. SNPs covering GNPTAB, GNPTG and NAGPA were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA with developmental dyslexia in a Chinese population was identified after false discovery rate correction for multiple comparisons. PMID: 25643770
    3. Mutational analysis of several residues in a highly conserved surface cavity of hUCE revealed that they are essential for function. PMID: 23572527
    4. To date mutations in GNPTAB, GNPTG, and NAGPA have been associated with stuttering. These genes encode the lysosomal enzyme targeting pathway, defective in mucolipidosis. (Review) PMID: 22884963
    5. Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering. PMID: 21956109
    6. identified three mutations in the NAGPA gene associated with stuttering PMID: 20147709
    7. synthesis as a proenzyme that is activated by furin [mannose 6-phosphate-uncovering enzyme] PMID: 12058031
    8. The mannose 6-phosphate uncovering enzyme participates in the uncovering of the mannose 6-phosphate recognition tag on lysosomal enzymes, a process that facilitates recognition of those enzymes by mannose 6-phosphate receptors to delivery to lysosomes. PMID: 15976452

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  • 相關疾病：
    Defects in NAGPA have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech.
  • 亞細胞定位：
    Golgi apparatus, Golgi stack membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network. Note=Cis/medial Golgi.
  • 組織特異性：
    Isoform 2 may be brain-specific.
  • 數據庫鏈接：

    HGNC: 17378

    OMIM: 607985

    KEGG: hsa:51172

    STRING: 9606.ENSP00000310998

    UniGene: Hs.21334



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