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  4. PREPL Antibody, Biotin conjugated

PREPL Antibody, Biotin conjugated

  • 中文名稱：
    PREPL兔多克隆抗體, Biotin偶聯
  • 貨號：
    CSB-PA018665LD01HU
  • 規格：
    ￥880
  • 其他：

產品詳情

  • 產品名稱：
    Rabbit anti-Homo sapiens (Human) PREPL Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    PREPL
  • 別名：
    PPCEL_HUMAN antibody; prepl antibody; Prolyl endopeptidase-like antibody; Prolylendopeptidase-like antibody; putative prolyl oligopeptidase antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human
  • 免疫原：
    Recombinant Human Prolyl endopeptidase-like protein (604-699AA)
  • 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：
    Serine peptidase whose precise substrate specificity remains unclear. Does not cleave peptides after a arginine or lysine residue. Regulates trans-Golgi network morphology and sorting by regulating the membrane binding of the AP-1 complex. May play a role in the regulation of synaptic vesicle exocytosis.
  • 基因功能參考文獻：
    1. we report the first homozygous PREPL point mutation in a girl with typical PREPL deficiency. This syndrome should be considered in the differential diagnosis of hypotonic neonates exhibiting myasthenic symptoms, hyperphagia, and various degrees of ID. PMID: 29483676
    2. Deletion of PREPL is associated with Hypotonia-cystinuria syndrome. PMID: 23794250
    3. Two novel deletions encompassing the SLC3A1 and PREPL genes have been identified in unrelated hypotonia-cystinuria syndrome patients. PMID: 22796000
    4. description of L-leucine transport into bladder carcinoma cells PMID: 12225859
    5. A 638-residue variant of PREPL, PREPL A, was identifiied, expressed in Escherichia coli and purified; its secondary structure was similar to that of oligopeptidase B. PMID: 16143824
    6. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. PMID: 16385448
    7. Deletion of the gene results in hypotonia at birth, failure to thrive and growth hormone deficiency PMID: 16913837
    8. a deletion of PREPL causes atypical hypotonia-cystinuria syndrome PMID: 18234729

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  • 相關疾病：
    Hypotonia-cystinuria syndrome (HCS); Myasthenic syndrome, congenital, 22 (CMS22)
  • 亞細胞定位：
    Cytoplasm, cytosol. Golgi apparatus, trans-Golgi network. Cytoplasm, cytoskeleton. Golgi apparatus. Nucleus.
  • 蛋白家族：
    Peptidase S9A family
  • 組織特異性：
    Expressed in pyramidal neurons of the temporal cortex and neocortex (at protein level). Widely expressed. Expressed at higher level in brain, skeletal muscle, heart and kidney. Expressed at the endplates in the neuromuscular junction.
  • 數據庫鏈接：

    HGNC: 30228

    OMIM: 606407

    KEGG: hsa:9581

    STRING: 9606.ENSP00000260648

    UniGene: Hs.444349



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