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Concept information

Preferred term

Ataxin-3  

Type

  • Topical Descriptor

Entry terms

  • Ataxin 3 Protein
  • Ataxin-3 Protein
  • ATXN3 Protein
  • Machado Joseph Disease Protein
  • Machado-Joseph Disease Protein
  • SCA3 Protein
  • Spinocerebellar Ataxia 3 Protein

Scope note

  • A deubiquitinating enzyme of the ATAXINS family. It functions in protein homeostasis, GENETIC TRANSCRIPTION; CYTOSKELETON regulation, and MYOGENESIS. CAG TRINUCLEOTIDE REPEAT EXPANSION in the Ataxin-3 gene coding region is associated with spinocerebellar ataxia-3 (MACHADO-JOSEPH DISEASE).

History note

  • 2016 (1995)

In other languages

  • Finnish

  • Swedish

  • Ataxin-3 protein
  • SCA3 protein
  • Spinocerebellär ataxi typ 3 protein

URI

http://www.yso.fi/onto/mesh/D000067699

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