Ataxin 1 Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Ataxin-1
| Protein Name | Ataxin-1 |
| Gene | ATXN1 |
| UniProt ID | P54253 |
| PDB IDs | 6MW8, 6MZT |
| Molecular Weight | 86.8 kDa |
| Subcellular Localization | Nucleus |
| Protein Family | Ataxin family |
| Associated Diseases | Spinocerebellar Ataxia Type 1 |
ATAXIN1 PROTEIN is a gene/protein encoding a key neuronal protein involved in synaptic function, signal transduction, and cellular homeostasis. Dysfunction of ATAXIN1 PROTEIN is associated with neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, and related disorders.
Ataxin-1 is a Ataxin family protein. The protein has a molecular weight of approximately 86.8 kDa and localizes to Nucleus.
Ataxin-1 is a nuclear protein with an AXH domain that mediates protein-protein interactions. The polyglutamine expansion causes Spinocerebellar Ataxia Type 1 (SCA1), leading to cerebellar degeneration and ataxia.
Dysfunction of Ataxin-1 contributes to Spinocerebellar Ataxia Type 1. Pathogenic variants in the ATXN1 gene lead to protein aggregation, loss of function, or toxic gain-of-function that drives neurodegeneration.
Research is ongoing to develop therapeutic strategies targeting Ataxin-1 or its pathogenic pathways:
The study of Ataxin 1 Protein has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.