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GBE1 Antibody

  • 货号：
    CSB-PA754361LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • IHC image of CSB-PA754361LA01HU diluted at 1:200 and staining in paraffin-embedded human kidney 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 Goat anti-rabbit IgG labeled by HRP and visualized using 0.05% DAB.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) GBE1 Polyclonal antibody
  • Uniprot No.：
    Q04446
  • 基因名：
    GBE1
  • 别名：
    1,4-alpha-glucan-branching enzyme (EC 2.4.1.18) (Brancher enzyme) (Glycogen-branching enzyme), GBE1
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human 1,4-alpha-glucan-branching enzyme protein (1-300aa)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，GBE1 Antibody (CSB-PA754361LA01HU)，的标记方式是Non-conjugated。对于GBE1 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-PA754361LB01HU GBE1 Antibody, HRP conjugated ELISA
    FITC CSB-PA754361LC01HU GBE1 Antibody, FITC conjugated
    Biotin CSB-PA754361LD01HU GBE1 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 1:100-1:500
  • 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

  • 功能：
    Required for normal glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule.
  • 基因功能参考文献：
    1. Case Report: novel heterozygous variant (c.760A>G; p.Thr254Ala) in exon 6 of the GBE1 gene resulting in glycogen storage disease type IV. PMID: 27107456
    2. The crystal structure of GBE1 in complex with oligosaccharides was determined, the structural and molecular bases of Adult Polyglucosan Body Disease-linked missense mutations was investigated. PMID: 26199317
    3. The presence of polyglucosan bodies in intramuscular nerve twigs by itself and is not an indication of APBD mutation. PMID: 26670585
    4. GBE1 mutation is found in manifesting heterozygous patients with adult polyglucosan body disease PMID: 25665141
    5. Case Reports: novel missense/deletion mutations in GBE1 in glycogen storage disease type IV. PMID: 20058079
    6. GBE1 mutations can cause an early adult-onset relapsing-remitting form of polyglucosan body disease distinct from adult polyglucosan body disease in several ways, including younger age at onset. PMID: 24248152
    7. Compound heterozygous mutations in GBE1 were identified as the cause of lethal multiple pterygium syndrome in a family. PMID: 23218673
    8. this is the first epidemiologic study of the mutation frequency of the adult polyglucosan body disease -associated GBE1 mutation c.1076A>C in a large Ashkenazi Jewish cohort. PMID: 22943850
    9. APBD with GBE deficiency is a clinically homogenous disorder that should be suspected in patients with adult onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms and spinal atrophy. PMID: 23034915
    10. A review of the literature for glycogen storage disease type IV patients with characterized molecular defects and deficient enzyme activity reveals most GBE1 mutations to be missense mutations clustering in the catalytic enzyme domain. PMID: 22305237
    11. Case Report: report an as yet undefined and different phenotype of glycogen storage disease with diminished branching enzyme activity associated with multisystemic involvement. PMID: 18392749
    12. GYS1 regulation by HIF plays a central role in the hypoxic accumulation of glycogen, and hypoxia also upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1) PMID: 20300197
    13. Nine novel GBE1 mutations were identified, including nonsense, missense, deletion, insertion, and splice-junction mutations. Implications for protein structure and interactions were modeled. PMID: 15452297
    14. Mutations in the GBE1 gene, located on chromosome 3, have been identified in phenotypes of glycogenosis 4. PMID: 17915577
    15. brain white matter degeneration in APBD may result from tissue damage involving axons and myelin in GBE missense mutation PMID: 17994551
    16. A c.1558delC frame shift mutation in exon 12 and a c.1999C>T mutation in exon 14 of the GBE1 gene were observed in a neonate with glycogen storage disease type IV. PMID: 18289670

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  • 相关疾病：
    Glycogen storage disease 4 (GSD4); Polyglucosan body neuropathy, adult form (APBN)
  • 蛋白家族：
    Glycosyl hydrolase 13 family, GlgB subfamily
  • 数据库链接：

    HGNC: 4180

    OMIM: 232500

    KEGG: hsa:2632

    STRING: 9606.ENSP00000410833

    UniGene: Hs.436062