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Concept information

Amino Acids, Peptides, and Proteins > Proteins > Nerve Tissue Proteins > Ataxins > Ataxin-2
Amino Acids, Peptides, and Proteins > Proteins > Nuclear Proteins > Ataxins > Ataxin-2
... > Amino Acids, Peptides, and Proteins > Proteins > Nucleoproteins > RNA-Binding Proteins > Poly(A)-Binding Proteins > Ataxin-2
... > Amino Acids, Peptides, and Proteins > Proteins > Carrier Proteins > RNA-Binding Proteins > Poly(A)-Binding Proteins > Ataxin-2

Preferred term

Ataxin-2  

Type

  • mesh:Descriptor

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.

Broader concept

Related concepts

Synonym(s)

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

Allowable Qualifier(s)

In other languages

  • Ataxine-2

    French

  • Protéine ataxine-2
  • Protéine Atx-2
  • Protéine ATXN2
  • Protéine de l'ataxie spinocérébelleuse de type 2
  • Protéine SCA2

URI

http://data.loterre.fr/ark:/67375/JVR-D9B3X99D-5

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RDF/XML TURTLE JSON-LD Created 7/6/15, last modified 11/23/15