| Protein Name | torsin family 1 member A |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 1861 |
| Gene Symbol | TOR1A |
| UniProt | O14656 (TOR1A_HUMAN), B3KPA1 (B3KPA1_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
82
Total Number of Articles : 188 |
Description |
torsin family 1 member A |
| Gene 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] |
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| Properties | |