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 332aa 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.
Applications:Suitable for use in ELISA, Western Blot, Immunohistochemistry, Immunocytochemistry.
Other applications not tested.
Recommended Dilution:ELISA: 1:100-1:5000Western Blot: 1:50-400Immunohistochemistry (frozen): 1:50-500Immunohistochemistry (paraffin): 1:10-100Immunocytochemistry: 1:50-500Optimal dilutions to be determined by the researcher.