概述

  • 产品名称Anti-GAA抗体
    参阅全部 GAA 一抗
  • 描述
    兔多克隆抗体to GAA
  • 经测试应用适用于: WBmore details
  • 种属反应性
    与反应: Human
  • 免疫原

    Synthetic peptide conjugated to KLH, corresponding to a region within N terminal amino acids 173-203 of Human GAA (NP_000143.2, NP_001073272.1 and NP_001073271.1).

  • 阳性对照
    • HL-60 cell line lysates

性能

应用

Our Abpromise guarantee covers the use of ab113021 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

应用 Ab评论 说明
WB 1/100 - 1/500. Predicted molecular weight: 105 kDa.

靶标

  • 功能Essential for the degradation of glygogen to glucose in lysosomes.
  • 疾病相关Defects in GAA are the cause of glycogen storage disease type 2 (GSD2) [MIM:232300]; also called acid alpha-glucosidase (GAA) deficiency or acid maltase deficiency (AMD). GSD2 is a metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy.
  • 序列相似性Belongs to the glycosyl hydrolase 31 family.
    Contains 1 P-type (trefoil) domain.
  • 翻译后修饰The different forms of acid glucosidase are obtained by proteolytic processing.
    Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6-phosphate receptor.
  • 细胞定位Lysosome. Lysosome membrane.
  • Information by UniProt
  • 数据库链接
  • 别名
    • 70 kDa lysosomal alpha-glucosidase antibody
    • Acid alpha glucosidase antibody
    • Acid maltase antibody
    • Aglucosidase alfa antibody
    • Alpha glucosidase antibody
    • GAA antibody
    • Glucosidase alpha acid (Pompe disease glycogen storage disease type II) antibody
    • Glucosidase alpha acid antibody
    • Glucosidase alpha antibody
    • LYAG antibody
    • LYAG_HUMAN antibody
    • Lysosomal alpha glucosidase antibody
    see all

Anti-GAA antibody 图像

  • Anti-GAA antibody (ab113021) at 1/100 dilution + HL-60 cell line lysates at 35 µg

    Predicted band size : 105 kDa

Anti-GAA antibody (ab113021)参考文献

ab113021 has not yet been referenced specifically in any publications.

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