The hereditary ataxias are neurodegenerative disorders characterized by abnormalities of balance due to dysfunction of the cerebellum and cerebellar pathways. Spinocerebellar ataxias (SCAs) represent a heterogeneous group of disorders with a prevalence of about 1 in 10^5. Moderate expansion (36 or 37 units) of CAG repeats on the SCA2 gene leads to a gene product, ataxin-2, that has a long polyglutamine tract. Ataxin-2 is a basic protein with two domains (Sm1 and Sm2) that have been implicated in RNA splicing and protein interaction. Human ataxin-2 has significant homology with mouse ataxin-2 and ataxin-2 related protein. Ataxin-2 is expressed as early as day 8 of mouse embryogenesis and is detected in brain, heart, placenta, liver, skeletal muscle, and pancreas, but not in lung or kidney. Expression increases with age and the protein is localized to the cytoplasm in purkinje cells and other neuronal cell types. Thus, ataxin-2 is thought to be important for RNA splicing or protein complex formation in many normal tissues, while polyglutamine containing ataxin-2 leads to neuropathology.
原厂资料：
注意事项：
1.Since applications vary, each investigator should titrate the reagent to obtain optimal results.
2.Caution: Sodium azide yields highly toxic hydrazoic acid under acidic conditions. Dilute azide compounds in running water before discarding to avoid accumulation of potentially explosive deposits in plumbing.
京公网安备11010802025653 版权所有：北京逸优科技有限公司
