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Concept information

Terme préférentiel

Ataxins  

Type

  • mesh:Descriptor

Définition

  • 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.

Synonyme(s)

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

Traductions

  • français

  • Protéines des ataxies spinocérébelleuses

URI

http://data.loterre.fr/ark:/67375/JVR-SV6J01JM-8

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RDF/XML TURTLE JSON-LD Date de création 06/07/2015, dernière modification le 27/05/2020