Concept information
Preferred term
Ataxin-3
Type
-
Topical Descriptor
Broader concept
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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