Table 1.7.
Ataxins (Atxns; Source: [107, 108]; boat brother of ataxin-1, MJDL Machado–Joseph disease protein-like protein)
| Type | Function |
|---|---|
| Atxn1 (SCA1) | Chromatin-binding factor repressing notch signaling (CBF1 corepressor) |
| Atxn1L (boat) | Also named chromatin-binding repressor of notch cooperating with Atxn1 |
| Atxn2 (SCA2) | Inhibition of EGFR internalization |
| Atxn2L | Regulation of stress granule and P-body formation |
| Atxn3 (SCA3) | Deubiquitinase of proteostasis maintenance |
| (MJD1) | Involved in gene transcription, cytoskeleton regulation, and myogenesis |
| Atnx3L (MJD1L) | Deubiquitinase |
| Atxn7 (SCA7) | Component of the deubiquitination module of the SAGA histone acetyltransferase and deubiquitinase complex |
| Histone remodeling for transcriptional regulation | |
| Atxn7L1 (Atxn7L4), Atxn7L2: undetermined role | |
| Atxn7L3 | Component of the transcriptional regulatory SAGA complex |
| Atxn8 | ND |
| (SCA8, P1c2) | |
| Atxn10 (SCA10) | Survival of cerebellar neurons |
Expansion of the polyglutamine sequence in ataxins provokes spinocerebellar ataxia (SCA)