AntibodiesATXN1 (2F5) Antibody



0.1 ml




Ataxin-1 is a chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Ataxin-1 is related to autosomal dominant cerebellar ataxias (ADCA). ADCA is 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. 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. Ataxin-1 is widely expressed throughout the body.