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.
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) O14656
Entrez Gene ID: (Human) 1861
Molecular Function: chaperone