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PolyQ/Polyglutamine-Expansion Diseases Marker [5TF1-1C2]
Description Polyglutamine tract are portions of a protein consisting of a sequence of several glutamine unit. Several inheritable neurodegenerative disorders, so-called polyglutamine diseases, occur if a mutation causes a polyglutamine tract in a specific gene to become too long. Important examples of polyglutamine diseases include Huntington's disease, dentatorubralpallidoluysian atrophy (DRPLA), spinobulbar muscular atrophy (SBMA) and types of spinocerebellar ataxia (SCA). In these diseases, the pathogenic alleles usually contain 39 or more consecutive glutamine repeats. Higher repeat numbers lead to lower ages of onset. Patients with 40-60 glutamine repeats normally develop disease as adults, whereas patients with more than 60 repeats develop a juvenile onset disease. Each polyglutamine expansion disorder displays characteristic pathology, with neuronal loss evident in specific regions of the brain. It is believed that cells cannot properly dispose of proteins with overlong polyglutamine tracts Host Mouse Application ELISA, Immunocytochemistry (ICC), Immunohistochemistry (IHC), Immunoprecipitation (IP), Western Blot (WB) Reactivity Human