Alternative products:At least 2 isoforms are produced ,Disease:Defects in ATXN1 are the cause of spinocerebellar ataxia type 1 (SCA1) [MIM:164400]; also known as olivopontocerebellar atrophy I (OPCA I or OPCA1) . 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 cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 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. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. ,Domain:The AXH domain is required for interaction with CIC. ,Function:Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function. ,miscellaneous:The self-association seems to be necessary to form nuclear aggregates. ,online information:Ataxin-1 entry ,polymorphism:The poly-Gln region of ATXN1 is highly polymorphic (4 to 39 repeats) in the normal population and is expanded to about 40-83 repeats in spinocerebellar ataxia 1 (SCA1) patients. ,similarity:Belongs to the ATXN1 family. ,similarity:Contains 1 AXH domain. ,subcellular location:Colocalizes with USP7 in the nucleus. ,subunit:Interacts with CIC (By similarity) . Interacts with ANP32A , PQBP1 , UBIN , ATXN1L , USP7 and ZNF804A. ,tissue specificity:Widely expressed throughout the body. ,
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