Ataxin-2

Ataxin-2

Svensk definition

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.

Engelsk definition

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.

Svenska synonymer

Ataxin-2 protein Spinocerebellär ataxi typ 2 protein SCA2 protein

Engelska synonymer

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