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GMPPA Antibody

  • 货号：
    CSB-PA009578GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q96IJ6
  • 基因名：
    GMPPA
  • 别名：
    GDP mannose pyrophosphorylase A antibody; GDP-mannose pyrophosphorylase A antibody; Gmppa antibody; GMPPA_HUMAN antibody; GTP mannose 1 phosphate guanylyltransferase alpha antibody; GTP-mannose-1-phosphate guanylyltransferase alpha antibody; Mannose 1 phosphate guanylyltransferase (GDP) antibody; Mannose-1-phosphate guanyltransferase alpha antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human GMPPA
  • 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,IF
  • 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：
    May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose.
  • 基因功能参考文献：
    1. Based on our findings and the previous report describing patients with an overlapping phenotype, we conclude that this novel variant in GMPPA, identified by exome sequencing in the proband and her affected sister, is the genetic cause of their phenotype and may expand the known phenotype of this recently described glycosylation disorder. PMID: 28574218
    2. GMPPA might serve as a GMPPB regulatory subunit mediating feedback inhibition of GMPPB instead of displaying catalytic enzyme activity itself. PMID: 24035193
  • 相关疾病：
    Alacrima, achalasia, and mental retardation syndrome (AAMR)
  • 亚细胞定位：
    Cytoplasm. Note=Myc-tagged GMPPA shows a diffuse cytoplasmic and nuclear pattern in transfected COS-7 cells.
  • 蛋白家族：
    Transferase hexapeptide repeat family
  • 组织特异性：
    Expressed in fibroblasts (at protein level).
  • 数据库链接：

    HGNC: 22923

    OMIM: 615495

    KEGG: hsa:29926

    STRING: 9606.ENSP00000315925

    UniGene: Hs.27059