The ataxin proteins are involved in regulating cellular homeostasis (e.g., transcriptional regulation, RNA processing, and protein quality control), with crucial roles in neurons including providing neuroprotective effects. Genetic mutations cause spinocerebellar ataxias. HGNC lists 7 genes for ataxins, and 7 more for ataxin-like proteins. Some of the ataxins are being explored as drug targets for human diseases [1-3,5].

1. Costa RG, Conceição A, Matos CA, Nóbrega C. (2024) The polyglutamine protein ATXN2: from its molecular functions to its involvement in disease. Cell Death Dis, 15 (6): 415. [PMID:38877004]

2. Kalasa Anil Kumar AP, Subair S, Basthikoppa Shivamurthy P, Ummar S, Rajeev AC, Raju R. (2025) Decoding ATXN2 Phosphocode: Structural Insights and Therapeutic Opportunities in Disease. Protein J, 44 (5): 483-500. [PMID:40884740]

3. Khan AP, Bhatt LK. (2025) Deciphering deubiquitinating enzyme Ataxin-3 as an emerging target for cancer intervention. Int J Biol Macromol, 330 (Pt 2): 148113. [PMID:41057074]

4. Li L, Wang M, Huang L, Zheng X, Wang L, Miao H. (2024) Ataxin-2: a powerful RNA-binding protein. Discov Oncol, 15 (1): 298. [PMID:39039334]

5. Sabetta E, Ferrari D, Massimo L, Kõks S. (2025) Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis. Front Neurol, 16: 1522445. [PMID:40012994]

6. Zhu J, Wang L, Wen W, Kojic L, Cynader M et al.. (2025) Degron peptide targeting Ataxin-2 mitigates neurodegeneration and neuroinflammation Progression in a TDP-43 Mouse Model of ALS. Authorea, Preprint. DOI: 10.22541/au.175023624.41125652/v1