" /> Ataxin-1 - CISMeF





Preferred Label : Ataxin-1;

NCIt synonyms : Ataxin 1; Spinocerebellar Ataxia Type 1 Protein; ATXN1;

NCIt definition : Ataxin-1 (815 aa, 87 kDa) is encoded by the human ATXN1 gene. This protein is involved in chromatin binding, RNA metabolism and Notch signaling.;

NCIt note : CGA repeat expansion within the coding region of the ATXN1 gene encodes an expanded polyglutamine tract in the mutated forms of ataxin-1. Expanded polyglutamine tracts may inhibit RNA binding by and may impair proteasome-mediated degradation of ataxin-1. (OMIM);

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31/07/2025


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