Gene Symbol | TOR1A |
Entrez Gene ID | 1861 |
Full Name | torsin family 1 member A |
Synonyms | DQ2,DYT1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Dystonia-1, torsion, 128100 (3); {Dystonia-1, modifier of} (3) |