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TOR1A

Official Full Name
torsin family 1 member A
Organism
Homo sapiens
GeneID
1861
Background
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]
Synonyms
DQ2; AMC5; DYT1;

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