Sacsin 抗体 (C-Term)
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Quick Overview for Sacsin 抗体 (C-Term) (ABIN5673657)
抗原
See all Sacsin (SACS) 抗体适用
宿主
克隆类型
标记
应用范围
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抗原表位
- C-Term
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序列
- VVEQAWKLPE SERKKIIRRL YLKWHPDKNP ENHDIANEVF KHLQNEINRL
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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 C terminal region of human SACS
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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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- Sacsin (SACS) (Spastic Ataxia of Charlevoix-Saguenay (Sacsin) (SACS))
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别名
- SACS
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背景
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This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins". A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants.
Alias Symbols: SPAX6, ARSACS, DNAJC29, PPP1R138
Protein Size: 309 -
基因ID
- 26278
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NCBI登录号
- NM_014363, NP_055178
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UniProt
- Q7Z6W7
抗原
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