Ett poly A RNA-bindande protein som negativt reglerar endocytos i epidermal tillväxtfaktorreceptor. En ökad risk för att utveckla amyotrofisk lateralskleros 13 kan observeras hos patienter med fler än 23 CAG-upprepningari ATXN2 genkodningssekvens. Större CAG-ökning i ATXN2-genen förekommer hos patienter med spinocerebellära ataxi 2.
A 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.
Ataxin-2 protein — Spinocerebellär ataxi typ 2 protein — SCA2 protein
Ataxin 2 — Ataxin-2 Protein — Ataxin 2 Protein — Protein, Ataxin-2 — Spinocerebellar Ataxia Type 2 Protein — ATXN2 Protein — Protein, ATXN2 — Atx-2 Protein — Atx 2 Protein — Protein, Atx-2 — SCA2 Protein — Protein, SCA2