| Disorder | Mutant protein (mutated gene) | Function of protein | Refs |
|---|---|---|---|
| SCA5 | β2-spectrin (SPTBN2) | Helps to form neuronal membrane skeleton | 137 |
| SCA11 | Tau tubulin kinase 2 (TTBK2) | Tau phosphorylation | 138 |
| SCA13 | Voltage-gated potassium channel subunit Kv3.3 (KCNC3) | Regulates membrane potential | 139 |
| SCA14 | Protein kinase Cγ (PRKCG) | Protein phosphorylation | 140 |
| SCA15/16 | Inositol 1,4,5-triphosphate receptor type 1 (ITPR1) | Ca2+ signalling | 141–143 |
| SCA23 | Prodynorphin (PDYN) | Synaptic transmission | 144 |
| SCA26 | Eukaryotic translation elongation factor 2 (EEF2) | Translation | 145 |
| SCA27 | Fibroblast growth factor 14 (FGF14) | Cell growth and survival | 146 |
| SCA28 | AFG3-like protein 2 (AFG3L2) | ATP-dependent protease | 147 |
| SCA34 | Elongation of very long chain fatty acids 4 (ELOVL4) | Lipid metabolism | 148 |
| SCA35 | Transglutaminase 6 (TGM6) | Protein crosslinking | 149 |
| SCA38 | Elongation of very long chain fatty acids 5 (ELOVL 5) | Lipid metabolism | 150 |
| SCA40 | Coiled-coil domain-containing protein 88C (CCDC88C) | WNT signalling | 151 |
| SCA41 | Transient receptor potential 3 (TRPC3) | Regulates membrane potential, Ca2+ signalling | 152 |
| SCA42 | Voltage-gated calcium channel subunit-α1G Cav3.1 (CACNA1G) | Ca2+ signalling | 153 |
| SCA43 | Neprilysin (MME) | Zinc-dependent metalloprotease | 154 |
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