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IDUA Antibody

  • 货号：
    CSB-PA011000LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • IHC image of CSB-PA011000LA01HU diluted at 1:300 and staining in paraffin-embedded human prostate cancer performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
    • IHC image of CSB-PA011000LA01HU diluted at 1:300 and staining in paraffin-embedded human pancreatic tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) IDUA Polyclonal antibody
  • Uniprot No.：
    P35475
  • 基因名：
  • 别名：
    IDUA antibody; Alpha-L-iduronidase antibody; EC 3.2.1.76 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Alpha-L-iduronidase protein (28-653AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，IDUA Antibody (CSB-PA011000LA01HU)，的标记方式是Non-conjugated。对于IDUA Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA011000LB01HU IDUA Antibody, HRP conjugated ELISA
    FITC CSB-PA011000LC01HU IDUA Antibody, FITC conjugated
    Biotin CSB-PA011000LD01HU IDUA Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:200-1:500
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 基因功能参考文献：
    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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  • 相关疾病：
    Mucopolysaccharidosis 1H (MPS1H); Mucopolysaccharidosis 1H/S (MPS1H/S); Mucopolysaccharidosis 1S (MPS1S)
  • 亚细胞定位：
    Lysosome.
  • 蛋白家族：
    Glycosyl hydrolase 39 family
  • 组织特异性：
    Ubiquitous.
  • 数据库链接：

    HGNC: 5391

    OMIM: 252800

    KEGG: hsa:3425

    STRING: 9606.ENSP00000247933

    UniGene: Hs.89560