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Ataxin-1 is a protein that in humans is encoded by the ''ATXN1'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6310 )〕 Mutations in this gene have been linked to neuronal death in suffers of spinocerebellar ataxia type 1, an inherited neurodegenerative disease characterized by a progressive loss of cerebellar neurons. Pathogenic ATXN1 contains an abnormally elongated stretch of the amino acid glutamine. This causes the protein to spontaneously misfold and form aggregates. It has been shown that other neuronal proteins can modulate the formation of Ataxin-1 aggregates and that this in turn may affect aggregate-induced toxicity. ==Interactions== Ataxin 1 has been shown to interact with: * C2orf27, * Coilin, * Glyceraldehyde 3-phosphate dehydrogenase, * UBE2E1,〔 and * USP7. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Ataxin 1」の詳細全文を読む スポンサード リンク
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