Torsin 1A (TOR1A)

Torsin-1Ais 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.

The deduced protein, termed 'torsinA' by them, comprises 332 amino acids and has a calculated molecular mass of 37,813 Da. It contains an ATP-binding domain and a putative N-terminal leader sequence. DYT1 has high homology to 3 additional mammalian genes and a nematode gene and distal similarity to the family of heat-shock proteins and the Clp protease family. Northern blot analysis detected 2 ubiquitously expressed transcripts of 1.8 kb and 2.2 kb and an additional low-abundance transcript of 5 kb in fetal brain, lung, and kidney, as well as in adult brain, heart, and pancreas.