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ataxín-2

  1. Subject h.ataxín-2
    Subject h.Ataxin-2
    Entry termsproteín ataxínu-2
    Atx-2 proteín
    SCA2 proteín
    proteín spinocerebelárnej ataxie typu 2
    Scope note in EnglishA Poly(A) RNA-binding protein that negatively regulates EGFR ENDOCYTOSIS. An increased risk for developing AMYOTROPHIC LATERAL SCLEROSIS 13 is observed in patients who have more than 23 CAG repeats in the ATXN2 gene coding sequence. Larger CAG expansions in the ATXN2 gene occur in SPINOCEREBELLAR ATAXIA 2 patients.
    See also reference (FX) in Slovak ataxie spinocerebelárne
    See also reference (FX) in English Spinocerebellar Ataxias
    Links (1) - MeSH descriptor
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