3 Ontology Annotations
| GO Term | Gene Name |
|---|---|
| GO:0005524 | IPR017378 |
| GO:0051085 | IPR017378 |
| GO:0005783 | IPR017378 |
| Type: | Family | Name: | Torsin 1/2 |
| Description: | This entry represents a number of torsins including types 1A, 1B and 2A. Some torsin-like proteins are also included. Torsion dystonia is an autosomal dominant movement disorder characterised by involuntary, repetitive muscle contractions and twisted postures. The most severe early-onset form of dystonia has been linked to mutations in the human DYT1 (TOR1A) gene encoding a protein termed torsinA. While causative genetic alterations have been identified, the function of torsin proteins and the molecular mechanism underlying dystonia remain unknown. Phylogenetic analysis of the torsin protein family indicates these proteins share distant sequence similarity with the large and diverse family of AAA ATPase, central region containing proteins () proteins. It has been suggested that torsins play a role in effectively managing protein folding and that possible breakdown in a neuroprotective mechanism that is, in part, mediated by torsins may be responsible for the neuronal dysfunction associated with dystonia []. | Short Name: | Torsin_1/2 |
| GO Term | Gene Name |
|---|---|
| GO:0005524 | IPR017378 |
| GO:0051085 | IPR017378 |
| GO:0005783 | IPR017378 |
