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Human α-L-iduronidase,IDUA ELISA Kit

  • 中文名稱:
    人αL艾杜糖苷酸酶(IDUA)酶聯(lián)免疫試劑盒
  • 貨號:
    CSB-E09455h
  • 規(guī)格:
    96T/48T
  • 價格:
    ¥3600/¥2500
  • 其他:

產品詳情

  • 產品描述:
    人αL艾杜糖苷酸酶(IDUA)酶聯(lián)免疫試劑盒(CSB-E09455h)為雙抗夾心法ELISA試劑盒,定量檢測血清、血漿、細胞裂解物、組織勻漿樣本中的IDUA含量。IDUA是α-L-艾杜糖醛酸酶的編碼基因,該酶參與糖胺聚糖降解。其缺乏會引發(fā)黏多糖貯積癥I型,導致多系統(tǒng)病變和發(fā)育異常。目前研究聚焦于通過基因治療、酶替代治療等機制來補充IDUA功能,改善患者癥狀和預后。試劑盒檢測范圍為0.156 ng/mL-10 ng/mL,適用于科研領域中對 IDUA 表達水平的分析,例如疾病機制研究、基因治療模型評估或藥物干預效果驗證等;為研究溶酶體功能異常、代謝調控及遺傳性疾病相關通路提供了可靠工具。本品僅用于科研,不用于臨床診斷,產品具體參數(shù)及操作步驟詳見產品說明書。
  • 別名:
    IDUA ELISA Kit; Alpha-L-iduronidase ELISA Kit; EC 3.2.1.76 ELISA Kit
  • 縮寫:
  • Uniprot No.:
  • 種屬:
    Homo sapiens (Human)
  • 樣本類型:
    serum, plasma, cell lysates, tissue homogenates
  • 檢測范圍:
    0.156 ng/mL-10 ng/mL
  • 靈敏度:
    0.039 ng/mL
  • 反應時間:
    1-5h
  • 樣本體積:
    50-100ul
  • 檢測波長:
    450 nm
  • 研究領域:
    Signal Transduction
  • 測定原理:
    quantitative
  • 測定方法:
    Sandwich
  • 精密度:
    Intra-assay Precision (Precision within an assay): CV%<8%
    Three samples of known concentration were tested twenty times on one plate to assess.
    Inter-assay Precision (Precision between assays): CV%<10%
    Three samples of known concentration were tested in twenty assays to assess.
  • 線性度:
    To assess the linearity of the assay, samples were spiked with high concentrations of human IDUA in various matrices and diluted with the Sample Diluent to produce samples with values within the dynamic range of the assay.
     SampleSerum(n=4)
    1:1Average %88
    Range %84-92
    1:2Average %94
    Range %90-98
    1:4Average %99
    Range %95-104
    1:8Average %102
    Range %96-108
  • 回收率:
    The recovery of human IDUA spiked to levels throughout the range of the assay in various matrices was evaluated. Samples were diluted prior to assay as directed in the Sample Preparation section.
    Sample TypeAverage % RecoveryRange
    Serum (n=5) 8993-96
    EDTA plasma (n=4)10095-105
  • 標準曲線:
    These standard curves are provided for demonstration only. A standard curve should be generated for each set of samples assayed.
    ng/mlOD1OD2AverageCorrected
    102.825 2.867 2.846 2.739
    52.103 2.119 2.111 2.004
    2.51.125 1.137 1.131 1.024
    1.250.588 0.564 0.576 0.469
    0.6250.378 0.356 0.367 0.260
    0.3120.235 0.252 0.244 0.137
    0.1560.191 0.182 0.187 0.080
    00.109 0.105 0.107  
  • 數(shù)據(jù)處理:
  • 貨期:
    3-5 working days

產品評價

靶點詳情

  • 基因功能參考文獻:
    1. Enzyme activities (acid alpha-glucosidase (GAA), galactocerebrosidase (GALC), glucocerebrosidase (GBA), alpha-galactosidase A (GLA), alpha-iduronidase (IDUA) and sphingomyeline phosphodiesterase-1 (SMPD-1)) were measured on ~43,000 de-identified dried blood spot (DBS) punches, and screen positive samples were submitted for DNA sequencing to obtain genotype confirmation of disease risk PMID: 27238910
    2. Using lysosomal storage disease mucopolysaccharidosis type I (MPS I) dogs tolerized to human IDUA as neonates, we evaluated intrathecal delivery of an adeno-associated virus serotype 9 vector expressing human IDUA as a therapy for the central nervous system manifestations of MPS PMID: 27386755
    3. IDUA deletion mutation is associate with with mucopolysaccharidosis type I . PMID: 28604952
    4. 10 unrelated Korean patients with Mucopolysaccharidosis I, p.L346R and c.704ins5 were most commonly found in Korean patients with Mucopolysaccharidosis I. PMID: 27520059
    5. Molecular studies results unveiled the predominance of(Pro533Arg) IDUA variation in a series of 13 Algerian patients with Mucopolysaccharidosis Type I presented mainly with an attenuated phenotype. PMID: 27196898
    6. A new IDUA variant that alters the structure of the signal peptide associated with mucopolysaccharidosis type I is reported. PMID: 25256405
    7. Amino acid substitutions in alpha-L-iduronidase determine the severity of mucopolysaccharidosis type I. PMID: 24480078
    8. The alpha-L-iduronidase missense mutation causing L238Q substitution, when paired with a nonsense mutation, is associated with significant, late-onset brain disease. PMID: 24368159
    9. We conclude that this procedure for determining residual IDUA activity in fibroblasts of MPS I patients may be helpful to predict MPS I phenotype. PMID: 23786846
    10. The IDUA structures and biochemical analysis of the disease-relevant P533R mutation have enabled us to correlate the effects of mutations in IDUA to clinical phenotypes. PMID: 24036510
    11. Data show that alpha-l-iduronidase (hIDUA) enzyme activity was highly correlated with the N-glycan attached to N372. PMID: 23959878
    12. X-ray diffraction analysis of human alpha-L-iduronidase PMID: 23143250
    13. Transfer of a high level of human alpha-L-iduronidase gene into the central nervous system (CNS) of MPS I mutant mice susceptible to mucopolysaccharidosis (MPS) improves the outcome for MPS when a high level of CNS gene expression is achieved. PMID: 21397026
    14. A previously unreported IDUA splice site mutation (NG_008103.1:g.21632G>C; NM_000203.3:c.1727+3G>C) causing a Hurler phenotype in a patient heterozygous for the common p.Q70X (NG_008103.1:g.5862C>T) mutation. PMID: 21831683
    15. This paper, showed a heterogeneous pattern of mutations and polymorphisms in the IDUA gene among Tunisian patients. PMID: 21521498
    16. this study characterized the underlying IDUA mutations in a group of 102 newly studied European patients, including 37 Italians, whose condition has been clinically and biochemically diagnosed as MPS I. PMID: 21394825
    17. The identification of two novel alpha-L-iduronidase mutations should facilitate prenatal diagnosis and counseling for MPS I in Tunisia. PMID: 21639919
    18. study describes monozygotic twins with an attenuated form of mucopolysaccharidosis type I associated with a novel mutation of IDUA, who both showed cervical myelopathy as the initial and cardinal manifestation PMID: 21176924
    19. This study reports a novel mutation in IDUA, expanding the mutational spectrum for mucopolysaccharidosis type I. PMID: 21364962
    20. Studies show that mouse Idua-W392X mutation is analogous to the human IDUA-W402X mutation commonly found in MPS I-H patients. PMID: 19751987
    21. This is the first report of IDUA mutations in Egyptian patients with mucopolysaccharidosis type I. PMID: 19839758
    22. Results show that leukocyte IDUA from mucopolysaccharidosis I heterozygotes differs from the normal enzyme in terms of optimum pH, Km, Vmax and thermostability at 50 degrees C. PMID: 11825626
    23. Ninety percent of the MPS I patients in this study were genotyped and revealed 10 recurrent and thirteen novel IDUA gene mutations. PMID: 12559846
    24. 6 new mutations, c.1087C>T (p.R363C), c.1804T>A (p.F602I), c.793G>C, c.712T>A (p.L238Q), c.1727+2T>A, & c.1269C>G (p.S423R), in a total of 14 different mutations, & 13 polymorphisms , including the new c.246C>G (p.H82Q), were found in 10 MPS I pts. PMID: 15300847
    25. Model provides insights into why certain point mutations produce misfolded proteins and lead to severe mucopolysaccharidosis I, while other mutations produce proteins with minor structural perturbations and therefore the attenuated form of the disease. PMID: 15862278
    26. analysis of Alpha-L-Iduronidase mutations in Mucopolysaccharidosis I in Tunisia PMID: 16435195
    27. Describe a cohort of 14 Hurler-Scheie patients homozygous for the p.Leu490Pro missense mutation in the alpha-L-iduronidase gene. PMID: 17570076
    28. Analysis of the structural change in alpha-L-iduronidase of the severe mucopolysaccharidosis type I (MPS I) group and that of the attenuated disease, except for a couple of mutations, can help to predict the clinical outcome of MPS I. PMID: 18340403
    29. Mutations in the 130 C-terminal amino acids lead to clinical manifestations of Mucopolysaccharidosis type I , which indicates a functional importance of the C-terminus of the IDUA protein. PMID: 19396826

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  • 相關疾病:
    Mucopolysaccharidosis 1H (MPS1H); Mucopolysaccharidosis 1H/S (MPS1H/S); Mucopolysaccharidosis 1S (MPS1S)
  • 亞細胞定位:
    Lysosome.
  • 蛋白家族:
    Glycosyl hydrolase 39 family
  • 組織特異性:
    Ubiquitous.
  • 數(shù)據(jù)庫鏈接:

    HGNC: 5391

    OMIM: 252800

    KEGG: hsa:3425

    STRING: 9606.ENSP00000247933

    UniGene: Hs.89560



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