Ataxin 2 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-2
| Protein Name | Ataxin-2 |
| Gene | ATXN2 |
| UniProt ID | Q99700 |
| PDB IDs | 6WJC |
| Molecular Weight | 140.2 kDa |
| Subcellular Localization | Cytoplasm, Stress granules |
| Protein Family | Ataxin family |
| Associated Diseases | Spinocerebellar Ataxia Type 2, ALS, Parkinson's Disease |
ATAXIN2 PROTEIN is a gene/protein encoding a key neuronal protein involved in synaptic function, signal transduction, and cellular homeostasis. Dysfunction of ATAXIN2 PROTEIN is associated with neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, and related disorders.
Ataxin-2 is a Ataxin family protein. The protein has a molecular weight of approximately 140.2 kDa and localizes to Cytoplasm, Stress granules.
Ataxin-2 is a large RNA-binding protein involved in RNA metabolism, stress granule formation, and translational control. Pathogenic expansions cause SCA2, and intermediate expansions are a risk factor for ALS and Parkinson's disease.
Dysfunction of Ataxin-2 contributes to Spinocerebellar Ataxia Type 2. Pathogenic variants in the ATXN2 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-2 or its pathogenic pathways:
The study of Ataxin 2 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.