其他名称： ATXN1; ATX1; SCA1; Ataxin-1; Spinocerebellar ataxia type 1 protein
功能： 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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Nucleus . Colocalizes with USP7 in the nucleus. .
其他名称： ATXN1; ATX1; SCA1; Ataxin-1; Spinocerebellar ataxia type 1 protein
功能： 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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Nucleus . Colocalizes with USP7 in the nucleus. .
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