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GMPPB Antibody

  • 货号：
    CSB-PA009579GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9Y5P6
  • 基因名：
    GMPPB
  • 别名：
    GDP mannose pyrophosphorylase B antibody; GDP-mannose pyrophosphorylase B antibody; GMPPB antibody; GMPPB_HUMAN antibody; GTP-mannose-1-phosphate guanylyltransferase beta antibody; KIAA1851 antibody; Mannose 1 phosphate guanylyltransferase antibody; Mannose-1-phosphate guanyltransferase beta antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human GMPPB
  • 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 0.02% 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
  • 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 the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids.
  • 基因功能参考文献：
    1. Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. PMID: 28478914
    2. Study finds that the GMPPB mutation spectrum in Chinese patients may differ from that of European populations, with the mutation p.(Arg357His) most frequently found. These mutations may lead to abnormal folding of GMPPB leading to protein aggregates in the cytoplasm rather than an overall loss in protein expression. PMID: 28433477
    3. Patients with GMPPB-CMS have phenotypic features aligned with CMS subtypes harbouring mutations within the early stages of the glycosylation pathway. Additional features shared with the dystroglycanopathies include myopathic features, raised Creatine Kinase levels and variable mild cognitive delay. PMID: 27147698
    4. We observe that c.79G>C (p.D27H) is associated with a mild limb-girdle muscular dystrophy phenotype, whereas c.860G>A (p.R287Q) is associated with a relatively severe congenital muscular dystrophy typically involving brain development. PMID: 26310427
    5. This study found mutations in GMPPB can lead to a wide spectrum of clinical features where deficit in neuromuscular transmission is the major component in a subset of cases. PMID: 26133662
    6. The phenotypic spectrum of GMPPB mutations was expanded to include limb-girdle muscular dystrophies. PMID: 25681410
    7. Work confirms a role for GMPPB defects in alpha-dystroglycanopathy, and suggests that glycosylation may play a role in the neuronal membrane channels or networks involved in the physiology of generalized epilepsy syndromes. PMID: 24780531
    8. Individuals with GMPPB mutations have hypoglycosylated alpha-dystroglycan in muscle. These mutations cause congenital and limb-girdle muscular dystrophies. PMID: 23768512

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  • 相关疾病：
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14); Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14); Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)
  • 亚细胞定位：
    Cytoplasm.
  • 蛋白家族：
    Transferase hexapeptide repeat family
  • 数据库链接：

    HGNC: 22932

    OMIM: 615320

    KEGG: hsa:29925

    UniGene: Hs.567488