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Immunogen sequence: QAVEPISLGLA LAGVLTGYIY PRLYCLFAEC CGQKRSLSRE ALQKDLDDNL FGQHLAKK
Highest antigen sequence identity to the following orthologs - mouse 88%, rat 92%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: dystonia 1; Dystonia 1 protein; Dystonia 1 torsion; dystonia 1, torsion (autosomal dominant; torsin A); Torsin 1A; torsin A; torsin ATPase 1; Torsin ATPase-1A; Torsin family 1 member A; torsin family 1, member A (torsin A); Torsin-1A
Gene Aliases: DQ2; DYT1; TA; TOR1A; TORA
UniProt ID: (Human) Q96CA0
Entrez Gene ID: (Human) 1861
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