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SGSH Antibody

  • 货号：
    CSB-PA021200ESR1HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA021200ESR1HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human adrenal gland tissue using CSB-PA021200ESR1HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) SGSH Polyclonal antibody
  • Uniprot No.：
    P51688
  • 基因名：
  • 别名：
    Heparan sulfate sulfatase antibody; Heparan sulphate sulphatase antibody; HSS antibody; MPS 3A antibody; MPS3 A antibody; MPS3A antibody; Mucopolysaccharidosis type IIIA antibody; N sulfoglucosamine sulfohydrolase (sulfamidase) antibody; N sulfoglucosamine sulfohydrolase antibody; N-sulphoglucosamine sulphohydrolase antibody; SFMD antibody; SGSH antibody; SPHM_HUMAN antibody; Sulfoglucosamine sulfamidase antibody; Sulphamidase antibody; Sulphoglucosamine sulphamidase antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human N-sulphoglucosamine sulphohydrolase protein (273-502AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
  • 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

  • 功能：
    Catalyzes a step in lysosomal heparan sulfate degradation.
  • 基因功能参考文献：
    1. CSF enzyme activity levels for either SGSH (in MPS IIIA subjects) or NAGLU (in MPS IIIB) significantly differed from normal controls. Several other behavioral or functional measures were found to be uninformative in this population, including timed functional motor tests. PMID: 27590925
    2. We have identified ocular features of a patient with Sanfilippo syndrome type IIIA harboring a novel SGHS mutation that were not previously known to occur in this disease - namely, a progressive retinopathy with distinctive features, cystic macular changes responsive to carbonic anhydrase inhibitors, and complex electroretinographic abnormalities consistent with postreceptoral dysfunction. PMID: 26331342
    3. results demonstrate that a single systemic scAAVrh74-hSGSH delivery mediated efficient restoration of SGSH activity and resulted in a near complete correction of MPS IIIA molecular pathology PMID: 25592334
    4. The crystal structure of glycosylated sulfamidase provides insight into the diverse effects of pathogenic mutations on sulfamidase function in mucopolysaccharidosis type IIIA. PMID: 24816101
    5. Pre-symptomatic treatment of progressive neurodegenerative disease (mucopolysaccharidosis type IIIA) via intra-cerebrospinal fluid injection of recombinant human SGSH mediates highly significant reductions in neuropathology in a canine model. PMID: 21550404
    6. Processing and secretion of p.Ser298Pro sulfamidase suggests that small amounts of the newly synthesized enzyme are transported to lysosomes PMID: 21671382
    7. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications PMID: 11668611
    8. Sanfilippo syndrome (subtypes A and B) in Turkey: identification of novel mutations in SGSH and NAGLU PMID: 11793481
    9. expression studies of four novel mutations PMID: 15146460
    10. analysis of a nonsense mutation (Y40X) and two de novo missense mutations (E300V; Q307P) in heparan N-sulphatase in a mucopolysaccharidosis IIIA patient [case report] PMID: 15902564
    11. By assessing the degree of developmental regression over time a group of 7 pts with a slowly progressive course of MPSIIIA were identified. In these 7 pts and in 3 other mildly affected pts missense mutation c.892T>C (p.Ser298Pro) was found on 1 allele PMID: 18407553

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  • 相关疾病：
    Mucopolysaccharidosis 3A (MPS3A)
  • 亚细胞定位：
    Lysosome.
  • 蛋白家族：
    Sulfatase family
  • 数据库链接：

    HGNC: 10818

    OMIM: 252900

    KEGG: hsa:6448

    STRING: 9606.ENSP00000314606

    UniGene: Hs.31074