Ataxin 1 抗体 (N-Term)
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Quick Overview for Ataxin 1 抗体 (N-Term) (ABIN5514519)
抗原
See all Ataxin 1 (ATXN1) 抗体适用
宿主
克隆类型
标记
应用范围
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抗原表位
- N-Term
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序列
- TAWLPGNPGG RGHGGGRHGP AGTSVELGLQ QGIGLHKALS TGLDYSPPSA
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纯化方法
- Affinity purified
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免疫原
- The immunogen is a synthetic peptide directed towards the N terminal region of human ATXN1
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应用备注
- Optimal working dilution should be determined by the investigator.
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限制
- 仅限研究用
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状态
- Liquid
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缓冲液
- Liquid. Purified antibody supplied in 1x PBS buffer with 0.09 % (w/v) sodium azide and 2 % sucrose.
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储存液
- Sodium azide
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注意事项
- This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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储存条件
- -20 °C
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储存方法
- For short term use, store at 2-8°C up to 1 week. For long term storage, store at -20°C in small aliquots to prevent freeze-thaw cycles.
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- Ataxin 1 (ATXN1)
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别名
- ATXN1
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背景
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The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene.
Alias Symbols: ATX1, SCA1, D6S504E
Protein Size: 815 -
基因ID
- 6310
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NCBI登录号
- NM_000332, NP_000323
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UniProt
- P54253
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途径
- Synaptic Membrane
抗原
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