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产品信息
PA5-98704
应用
建议稀释比
已发表文章
产品规格
种属反应
Human
宿主/亚型
Rabbit
/ IgG
分类
Polyclonal
类型
Antibody
抗原
Recombinant Human Protein quaking protein (1-341AA)
偶联物
形式
Liquid
浓度
0.13 mg/mL
纯化类型
Antigen affinity chromatography
保存液
PBS, pH 7.3, with 50% glycerol
内含物
0.02% sodium azide
保存条件
-20°C or -80°C if preferred
运输条件
Wet ice
RRID
AB_2813317
靶标信息
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. Sacsin has been found to protect against mutant ataxin-1. A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
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生物信息学
蛋白别名: DKFZp586I0923; homolog of mouse quaking QKI (KH domain RNA binding protein); Hqk; KH domain-containing RNA-binding protein QKI; Protein quaking; QKI, KH domain containing, RNA binding; quaking homolog, KH domain RNA binding; RNA Binding (QKI); RNA binding protein HQK
基因别名: HKQ; Hqk; hqkI; QK; QK1; QK3; QKI
UniProt ID: (Human) Q96PU8
Entrez Gene ID: (Human) 9444
