Torsin A

[5] TorA localizes to the endoplasmic reticulum and contiguous perinuclear space, where its ATPase activity is activated by either LULL1 or LAP1, respectively.

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.

[6] Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.

[6] This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 9 is a stub.