TOR1A, Official Symbol TOR1Aprovided by HGNC Official Full Name torsin family 1 member Aprovided by HGNC Primary source HGNC:HGNC:3098 See related Ensembl:ENSG00000136827 MIM:605204; AllianceGenome:HGNC:3098 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DQ2; AMC5; DYT1 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] Expression Ubiquitous expression in thyroid (RPKM 14.8), urinary bladder (RPKM 12.7) and 25 other tissues See more Orthologs mouse all