Bioss Inc.'s ATXN3L Polyclonal Antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Immunocytochemistry, Immunofluorescence, Immunohistochemistry, Immunohistochemistry - fixed, Immunohistochemistry - frozen, and Western Blot. The ATXN3L Polyclonal Antibody was generated using ataxin 3 like, and ATXN3L as the antigen and it reacts with Homo Sapiens, and Human.
Description
Defects in ATXN3 are the cause of spinocerebellar ataxia type 3 (SCA3) ; also known as Machado-Joseph disease (MJD). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATXN3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease