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Most of the malignant cells showed weak to moderate cytoplasmic positivity occasionally combined with nuclear positivity. Basal cell carcinomas of the skin were negative.
GENE INFORMATION
Gene name
TOR1A (HGNC Symbol)
Synonyms
DQ2, DYT1
Description
Torsin family 1, member A (torsin A) (HGNC Symbol)
Entrez 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]