Concept information
Preferred term
Ataxins
Type
-
Topical Descriptor
Broader concept
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
-
Finnish
-
Swedish
-
Ataxinproteiner
-
Spinocerebellär ataxi proteiner
URI
http://www.yso.fi/onto/mesh/D000067528
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