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Concept information

Preferred term

Ataxin-2  

Type

  • Topical Descriptor

Entry terms

  • Ataxin 2 Protein
  • Ataxin-2 Protein
  • Atx 2 Protein
  • Atx-2 Protein
  • ATXN2 Protein
  • Protein, Ataxin-2
  • Protein, Atx-2
  • Protein, ATXN2
  • Protein, SCA2
  • SCA2 Protein
  • Spinocerebellar Ataxia Type 2 Protein

Scope note

  • 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.

History note

  • 2016; use SCA2 PROTEIN (NM) 1996-2015

In other languages

  • Finnish

  • Swedish

  • Ataxin-2 protein
  • SCA2 protein
  • Spinocerebellär ataxi typ 2 protein

URI

http://www.yso.fi/onto/mesh/D000067698

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