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GNS Antibody

  • 货号：
    CSB-PA009639GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P15586
  • 基因名：
    GNS
  • 别名：
    2610016K11Rik antibody; AU042285 antibody; C87209 antibody; G6S antibody; Glucosamine (N-acetyl) 6 sulfatase antibody; Glucosamine 6 sulfatase antibody; Glucosamine-6-sulfatase antibody; GNS antibody; GNS_HUMAN antibody; MGC21274 antibody; N acetylglucosamine 6 sulfatase [Precursor] antibody; N-acetylglucosamine-6-sulfatase antibody; N28088 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human GNS
  • 免疫原种属：
    Homo sapiens (Human)
  • 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 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • 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. Mice deficient in GNS showed lysosomal storage pathology and a phenotype that closely resembled human MPSIIID. Moreover, treatment of the GNS-deficient animals with GNS-encoding adeno-associated viral (AAV) vectors of serotype 9 delivered to the cerebrospinal fluid completely corrected pathological storage, improved lysosomal functionality in the CNS and somatic tissues, resolved neuroinflammation PMID: 28334745
    2. 12 new patients and 15 novel mutations were identified in Mucopolysaccharidosis type IIID. PMID: 20232353
    3. The Sanfilippo syndrome type D patient was found to be homozygous for a single base pair deletion (c1169delA), which will cause a frameshift and premature termination of N-acetylglucosamine-6-sulphatase. PMID: 12624138
    4. A large intragenic deletion of 8723 bp encompassing exons 2 and 3 has been identified, the first large intragenic deletion to be reported in any of the four Sanfilippo subtypes. Q272X has also been found. PMID: 16990043
    5. Sanfilippo syndrome type D has 3 novel mutations in the GNS Gene. PMID: 17998446
    6. We identified the novel homozygous single base pair insertion, c.1226GinsG, which leads to a frame-shift and a premature truncation of the GNS protein (p.R409Rfs21X). PMID: 19650410

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  • 相关疾病：
    Mucopolysaccharidosis 3D (MPS3D)
  • 亚细胞定位：
    Lysosome.
  • 蛋白家族：
    Sulfatase family
  • 数据库链接：

    HGNC: 4422

    OMIM: 252940

    KEGG: hsa:2799

    STRING: 9606.ENSP00000258145

    UniGene: Hs.334534