概述
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产品名称Anti-GBE1抗体
参阅全部 GBE1 一抗 -
描述兔多克隆抗体to GBE1
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经测试应用适用于: WBmore details
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种属反应性与反应: Mouse, Human
预测可用于: Horse
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免疫原
Synthetic peptide conjugated to KLH, corresponding to a region within internal sequence amino acids 534-564 of Human GBE1.
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阳性对照
- HL-60 cell lysate; Mouse liver tissue lysate
性能
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形式Liquid
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存放说明Shipped at 4°C. Store at 4°C (up to 6 months). Store at -20°C long term.
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存储溶液Preservative: 0.09% Sodium Azide
Constituents: PBS -
Concentration information loading... -
纯度Immunogen affinity purified
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纯化说明ab103133 is purified through a protein A column, followed by peptide affinity purification.
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克隆多克隆
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同种型IgG
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研究领域
相关产品
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Compatible Secondaries
应用
Our Abpromise guarantee covers the use of ab103133 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: 80 kDa. |
靶标
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功能Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells.
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组织特异性Highest levels found in liver and muscle.
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通路Glycan biosynthesis; glycogen biosynthesis.
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疾病相关Defects in GBE1 are the cause of glycogen storage disease type 4 (GSD4) [MIM:232500]; also known as Andersen disease. GSD4 is a metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of GSD4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity.
Note=Neuromuscular perinatal glycogen storage disease type 4 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 GBE1 are the cause of adult polyglucosan body disease (APBD) [MIM:263570]. APBD is a late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBD is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes. -
序列相似性Belongs to the glycosyl hydrolase 13 family.
- Information by UniProt
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数据库链接
- Entrez Gene: 100034152 Horse
- Entrez Gene: 2632 Human
- Entrez Gene: 74185 Mouse
- Omim: 607839 Human
- SwissProt: Q6EAS5 Horse
- SwissProt: Q04446 Human
- SwissProt: Q9D6Y9 Mouse
- Unigene: 436062 Human
see all -
别名
- 1 antibody
- 1,4 alpha glucan branching enzyme antibody
- 1,4-alpha-glucan branching enzyme 1 antibody
see all
Anti-GBE1 antibody 图像
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Western blot - GBE1 antibody (ab103133)Anti-GBE1 antibody (ab103133) at 1/100 dilution + HL-60 cell lysate at 35 µg
Predicted band size : 80 kDa -
Western blot - GBE1 antibody (ab103133)Anti-GBE1 antibody (ab103133) at 1/100 dilution + Mouse liver tissue lysate at 35 µg
Predicted band size : 80 kDa
Anti-GBE1 antibody (ab103133)参考文献
ab103133 has not yet been referenced specifically in any publications.
Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"