Torsin A
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). 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).[1]
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.[2]
Clinical significance
Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.[2]
References
Further reading
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External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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