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  4. Recombinant Human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (NAGPA), partial

Recombinant Human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (NAGPA), partial

  • 货号：
    CSB-YP015417HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP015417HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP015417HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP015417HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP015417HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    NAGPA
  • Uniprot No.：
  • 别名：
    Mannose 6-phosphate-uncovering enzyme; N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase; NAGPA; NAGPA_HUMAN; Phosphodiester alpha-GlcNAcase
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    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.
  • 亚细胞定位：
    Golgi apparatus, Golgi stack membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network. Note=Cis/medial Golgi.
  • 组织特异性：
    Isoform 2 may be brain-specific.
  • 数据库链接：

    HGNC: 17378

    OMIM: 607985

    KEGG: hsa:51172

    STRING: 9606.ENSP00000310998

    UniGene: Hs.21334