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Concept information

Preferred term

Ataxins  

Type

  • Topical Descriptor

Entry terms

  • Ataxia Protein, Spinocerebellar
  • Ataxia Proteins, Spinocerebellar
  • Ataxin
  • Ataxin Protein
  • Ataxin Proteins
  • Protein, Ataxin
  • Proteins, Ataxin
  • Protein, Spinocerebellar Ataxia
  • Proteins, Spinocerebellar Ataxia
  • Spinocerebellar Ataxia Protein
  • Spinocerebellar Ataxia Proteins

Scope note

  • A family of predominantly nuclear proteins that regulate gene transcription and protein degradation. The expansion of CAG trinucleotide repeats in genes that encode Ataxins is associated with SPINOCEREBELLAR ATAXIAS (SCA). In SCA patients, the number of CAG repeats correlates with the severity of disease and inversely correlates with the age of disease onset.

History note

  • 2016

In other languages

URI

http://www.yso.fi/onto/mesh/D000067528

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