Entrez 1861 | Ensembl ENSG00000136827 | |
 | ||
Aliases TOR1A, DQ2, DYT1, Torsin A, torsin family 1 member A External IDs MGI: 1353568 HomoloGene: 37263 GeneCards: TOR1A | ||
Torsin-1A (TOR1A) also known as dystonia 1 protein (DYT1) is a protein that in humans is encoded by the TOR1A gene (also known as DQ2 or DYT1).
Contents
Function
The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta.
Clinical significance
Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.
References
Torsin A Wikipedia(Text) CC BY-SA