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ataxín-3

  1. Subject h.ataxín-3
    Subject h.Ataxin-3
    Entry termsproteín ataxínu-3
    ATXN3 proteín
    proteín Machado-Josephovej choroby
    proteín azorskej nervovej choroby
    SCA3 proteín
    proteín spinocerebelárnej ataxie typu 3
    Scope note in EnglishA deubiquitinating enzyme of the ATAXINS family. It functions in protein homeostasis, GENETIC TRANSCRIPTION; CYTOSKELETON regulation, and MYOGENESIS. CAG TRINUCLEOTIDE REPEAT EXPANSION in the Ataxin-3 gene coding region is associated with spinocerebellar ataxia-3 (MACHADO-JOSEPH DISEASE).
    See also reference (FX) in Slovak ataxie spinocerebelárne
    See also reference (FX) in English Spinocerebellar Ataxias
    Links (1) - MeSH descriptor
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Number of the records: 1  

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