protein 1,012 words KG: ATAXIN8
Contents

Ataxin-8 Protein

🔬 Protein Info
Gene SymbolATAXIN8
Functionis a protein encoded by the ATXN8 gene.
Subcellular Localization** | Nucleus (intranuclear inclusions) |
Molecular Weight15 kDa
GeneCardsATAXIN8
Human Protein AtlasATAXIN8
Polyglutamine tractThe central feature of Ataxin-8; normally 15-50 glutamine residues, expanded to 80-250 in SCA8
Flanking sequencesShort N- and C-terminal sequences flanking the polyQ tract; these influence aggregation kinetics and toxicity
No known catalytic domainUnlike Ataxin-3 (deubiquitinase) or Ataxin-1 (AXH domain), Ataxin-8 has no characterized enzymatic activity
Aggregation-proneThe expanded polyQ tract adopts β-sheet-rich amyloid-like conformations that drive protein aggregation
Polyglutamine (polyQ)from the CAG reading frame (canonical Ataxin-8)
Polyalanine (polyA)from the GCA reading frame; forms cytoplasmic aggregates
Polyserine (polyS)from the AGC reading frame; accumulates preferentially in cerebellar white matter and is particularly toxic
Associated Diseasesneurodegeneration
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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