Table 1.
DYT loci with associated gene, protein and function (if known). DYT9 (identical to DYT18), DYT14 (identical to DYT5a), and DYT19 (identical to DYT10) are omitted
| Designation | Gene | Protein | Proposed protein function |
|---|---|---|---|
| DYT1 | TOR1A | TorsinA | AAA + family of ATPases, protein processing, and trafficking |
| DYT2 | Unknown | ||
| DYT3 | TAF1 | TAF1 RNA polymerase II, TATA box-binding protein-associated factor | Regulation of transcription |
| DYT4 | TUBB4 | TUBB4 | Tubulin, major component of cytoskeleton |
| DYT5 | a) | Enzymes involved in catecholamine synthesis | |
| GTPCH1 | |||
| b) | |||
| SR | |||
| TH | |||
| DYT6 | THAP1 | THAP1 | Zinc finger transcription factor |
| DYT7 | Unknown | ||
| DYT8 | PNKD1/MR-1 | PNKD protein/MR-1 protein | Unknown |
| DYT10 | PRRT2 | PRRT2 protein | Possibly involved in neurotransmitter release |
| DYT11 | SGCE | Epsilon–sarcoglycan | Dystrophin–glycoprotein complexes |
| DYT12 | ATP1A3 | Na+/K+ ATPase α-subunit | Ion transport |
| DYT13 | Unknown | ||
| DYT15 | Unknown | ||
| DYT16 | PRKRA | Stress response protein | |
| DYT17 | Unknown | ||
| DYT18 | SLC2A1 (GLUT1) | GLUT1 | Glucose transporter |
| DYT20 | Unknown | ||
| DYT21 | Unknown | ||
| DYT23 | CIZ1 | CDKN1A interacting zinc finger protein | DNA synthesis and cell cycle control |
| DYT24 | ANO3 | Anoctamin 3 | Calcium-gated chloride channel |
| DYT25 | GNAL | Gαolf | G protein; dopamine, D1, signaling; adenosine A2A receptors |