Ataxin-1 gene is mapped on chromosome 6p23 containing 9 exons with two transcript variants that binds to the HEY promoter which assist with NCOR2, RBPJ-mediated repression. Its aggregates is mostly found in the brain and spinal cord particularly in Purkinje cells that functions in the coordination of movement and chemical signaling between nerve cells.
Ataxin-1 is found throughout the body that localized in the nucleus containing CAG trinucleotide segment which made up of a series of three DNA building blocks that is repeated 39 times within the gene leads to abnormally long version of the ataxin-1 that folds into wrong 3-dimensional shape forming clumps within the nucleus of the cells.
Ataxin-1 mutations is implicated in spinocerebellar ataxia, a genetically and clinically heterogeneous disorders wherein individual shows poor coordination of hands, eye movements and speech due to cerebellum degeneration with erratic participation of the brainstem and spinal cord. Mutation occurs by the expansion of CAG repeat in the coding region in which the longer the expansion resulted in earlier onset and more severe manifestation of the disease.
Gene name: ATXN1
Protein name: Ataxin-1