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GYG1 Antibody

  • 货号：
    CSB-PA010070GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P46976
  • 基因名：
    GYG1
  • 别名：
    Glycogenin antibody; Glycogenin-1 antibody; Glycogenin1 antibody; GLYG_HUMAN antibody; GN-1 antibody; GN1 antibody; GYG 1 antibody; GYG antibody; GYG1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human GYG1
  • 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
  • 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：
    Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.
  • 基因功能参考文献：
    1. we screened the susceptibility loci for Myocardial infarction (MI) using exome sequencing and validated candidate variants in replication sets. We identified that three genes (GYG1, DIS3L and DDRGK1) were associated with MI at the discovery and replication stages. PMID: 29321365
    2. We present functional evidence for the pathogenicity of a novel GYG1 missense mutation located in the substrate binding domain. PMID: 29143313
    3. This study found a single homozygous intronic mutation of GYG1 harbored by five patients, who, except for two siblings, appear to be unrelated but all five live in central or south Sardinian villages. PMID: 26652229
    4. Depletion of glycogenin-1 and impaired interaction with glycogen synthase underlies a new form of glycogen storage disease. PMID: 25272951
    5. The glucosylation of glycogenin-2 was enhanced to 2-4 glucose units by the co-presence of enzymatically active glycogenin-1. PMID: 24239874
    6. results explain the glycogen depletion in the patient expressing only Thr83Met glycogenin-1 and why heterozygous carriers without clinical symptoms show a small proportion of unglucosylated glycogenin-1 PMID: 22198226
    7. Results show that glycogenin becomes inactivated with glycogen catabolism and that this event coincides with an increase in glycogenin gene expression as exercise and glycogenolysis progress. PMID: 15860684
    8. during recovery from prolonged exhaustive exercise, glycogenin mRNA and protein content and activity increase in muscle PMID: 15870102
    9. GN-1 is conserved, possibly as very small, or nascent, granules when glycogen concentration is low. This would provide the ability to rapidly restore glycogen during early recovery. PMID: 17311895

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  • 相关疾病：
    Glycogen storage disease 15 (GSD15); Polyglucosan body myopathy 2 (PGBM2)
  • 蛋白家族：
    Glycosyltransferase 8 family, Glycogenin subfamily
  • 组织特异性：
    Highly expressed in skeletal muscle and heart, with lower levels in brain, lung, kidney and pancreas.
  • 数据库链接：

    HGNC: 4699

    OMIM: 603942

    KEGG: hsa:2992

    STRING: 9606.ENSP00000340736

    UniGene: Hs.477892