蛋白质/抗原/多肽 >> 重组蛋白
重组肌萎缩侧索硬化症相关蛋白4
半岛bd体育手机客户端 介绍
基因名:
SETX 半岛bd体育手机客户端 别名: ALS4; AOA2; SCAN2; SCAR1; STEX; Sen1; bA479K20.2; SETX; senataxin; senataxin; probable helicase senataxin; SEN1 homolog; amyotrophic lateral sclerosis 4 protein; 肌萎缩侧索硬化症相关蛋白4; 背景信息:
SETX belongs to the DNA2/NAM7 helicase family. Localizing to the nucleolus or the nucleoplasm in a cell cycle-dependent manner and to the cytoplasm, SETX contains a C-terminal DNA/RNA helicase domain and is believed to function as a helicase involved in RNA processing and DNA repair. Mutations in the gene encoding SETX can lead to ataxia-ocular apraxia 2 (AOA2) or amyotrophic lateral sclerosis 4 (ALS4). AOA2, also known as spinocerebellar ataxia-1 (SCAR1), is an autosomal recessive disorder characterized by progressive neurodegeneration of the cerebellum associated with the loss of Purkinje cells. ALS4 is a familial childhood- or adolescent-onset neurodegenerative disorder affecting both upper and lower motor neurons that ultimately results in fatal paralysis.
标签:His-tag |
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