概述

  • 产品名称Anti-GBA抗体
    参阅全部 GBA 一抗
  • 描述
    兔多克隆抗体to GBA
  • 经测试应用适用于: WBmore details
  • 种属反应性
    与反应: Human
    预测可用于: Rat, Cow, Pig
  • 免疫原

    Recombinant fragment containing a sequence corresponding to a region within amino acids 65-354 of Human GBA (AAH03356).

  • 阳性对照
    • HeLa whole cell lysate; A431, H1299 and HepG2 cell lysates

性能

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应用

Our Abpromise guarantee covers the use of ab96256 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 1/500 - 1/3000. Predicted molecular weight: 60 kDa.

靶标

  • 疾病相关Defects in GBA are the cause of Gaucher disease (GD) [MIM:230800]; also known as glucocerebrosidase deficiency. GD is the most prevalent lysosomal storage disease, characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset.
    Defects in GBA are the cause of Gaucher disease type 1 (GD1) [MIM:230800]; also known as adult non-neuronopathic Gaucher disease. GD1 is characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved.
    Defects in GBA are the cause of Gaucher disease type 2 (GD2) [MIM:230900]; also known as acute neuronopathic Gaucher disease. GD2 is the most severe form and is universally progressive and fatal. It manifests soon after birth, with death generally occurring before patients reach two years of age.
    Defects in GBA are the cause of Gaucher disease type 3 (GD3) [MIM:231000]; also known as subacute neuronopathic Gaucher disease. GD3 has central nervous manifestations.
    Defects in GBA are the cause of Gaucher disease type 3C (GD3C) [MIM:231005]; also known as pseudo-Gaucher disease or Gaucher-like disease.
    Defects in GBA are the cause of Gaucher disease perinatal lethal (GDPL) [MIM:608013]. It is a distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism.
    Note=Perinatal lethal Gaucher disease is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
    Defects in GBA contribute to susceptibility to Parkinson disease (PARK) [MIM:168600]. A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features.
  • 序列相似性Belongs to the glycosyl hydrolase 30 family.
  • 细胞定位Lysosome membrane. Interaction with saposin-C promotes membrane association.
  • Information by UniProt
  • 数据库链接
  • 别名
    • Acid beta glucosidase antibody
    • Acid beta-glucosidase antibody
    • Alglucerase antibody
    • Beta glucocerebrosidase antibody
    • BETA GLUCOSIDASE, ACID antibody
    • Beta-glucocerebrosidase antibody
    • betaGC antibody
    • D glucosyl N acylsphingosine glucohydrolase antibody
    • D-glucosyl-N-acylsphingosine glucohydrolase antibody
    • EC 3.2.1.45 antibody
    • GBA antibody
    • Gba protein antibody
    • GBA1 antibody
    • GC antibody
    • GCase antibody
    • GCB antibody
    • GLCM_HUMAN antibody
    • GLUC antibody
    • Glucocerebrosidase (alt.) antibody
    • Glucocerebrosidase antibody
    • GLUCOCEREBROSIDASE PSEUDOGENE antibody
    • Glucosidase beta antibody
    • Glucosidase, beta, acid antibody
    • Glucosidase, beta; acid (includes glucosylceramidase) antibody
    • Glucosylceramidase antibody
    • Imiglucerase antibody
    • Lysosomal glucocerebrosidase antibody
    • OTTHUMP00000033992 antibody
    • OTTHUMP00000033993 antibody
    see all

Anti-GBA antibody 图像

  • Anti-GBA antibody (ab96256) at 1/1000 dilution + HeLa whole cell lysate at 30 µg

    Predicted band size : 60 kDa

Anti-GBA antibody (ab96256)参考文献

ab96256 has not yet been referenced specifically in any publications.

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