Anti-Ataxin 1 antibody [N76/8]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

Ataxin-1 sometimes referred to as 'ATXN1' is a protein encoded by the ATXN1 gene. It forms a part of the polyglutamine protein family and typically weighs around 85 kDa. Ataxin-1 appears in various tissues with the highest expression levels in the brain particularly in neurons of the cerebellum and other areas involved in coordination and motor control. This protein consists of multiple domains that contribute to its diverse range of functions including a highly conserved AXH domain involved in protein-protein interactions.

Biological function summary

Ataxin-1 plays a critical role in gene expression regulation and is also implicated in RNA binding. It often associates with large protein complexes such as those involved in RNA metabolism and transcriptional regulation. Ataxin-1 contributes to transcriptional repression through its interaction with transcriptional co-repressors and other proteins involved in gene expression control. This interaction helps maintain normal cellular functions critical for neuronal homeostasis and development.

Pathways

Ataxin-1 interacts with various cellular mechanisms important for normal physiological function. It operates in the Notch signaling pathway influencing cell fate decisions during development. Ataxin-1 is functionally linked to proteins such as RBPJ which cooperates in the regulation of gene expression through these pathways. Additionally it has connections to the Wnt signaling pathway affecting processes that govern cell growth and division alongside beta-catenin an important player in the Wnt signaling pathways.

Associated diseases and disorders

Ataxin-1 has strong associations with neurodegenerative conditions most notably spinocerebellar ataxia type 1 (SCA1). Variations in the ataxin-1 gene lead to expanded polyglutamine tracts which cause protein misfolding and aggregation contributing to neuronal dysfunction and degeneration. The protein also has potential links to Alzheimer's disease where altered ataxin-1 expression and interaction with amyloid precursor protein (APP) may exacerbate disease progression.