Application:IF
Reactivity: Mouse (predicted: Human,Rat,Sheep,Cow,Dog,Horse)
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.