Gene: TOR1A

Alternate names for this Gene: AMC5|DQ2|DYT1

Gene 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.11

Description of this Gene: torsin family 1 member A

Type of Gene: protein-coding

rs267607134 in TOR1A gene and DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT PMID 21102408 2011 CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process.

PMID 18167355 2008 The dystonia-associated protein torsinA modulates synaptic vesicle recycling.

PMID 20169475 2010 The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro.

PMID 27490483 2016 Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.

PMID 9288096 1997 The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

PMID 14970196 2004 The early onset dystonia protein torsinA interacts with kinesin light chain 1.

PMID 18477710 2008 Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).

PMID 18827015 2008 TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.

PMID 19955557 2010 Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.

PMID 17428918 2007 Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.

PMID 16361107 2006 Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics.

PMID 15505207 2004 Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant.

PMID 20482602 2011 EFNS guidelines on diagnosis and treatment of primary dystonias.

PMID 10627938 1999 Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

PMID 9576529 1998 The molecular genetics of the dystonias.

PMID 10435508 1999 GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.

PMID 25403864 2014 Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions.

PMID 21168499 2011 Genetic and clinical features of primary torsion dystonia.

rs80358233 in TOR1A gene and Dystonia PMID 9874484 1998 The role of DYT1 in primary torsion dystonia in Europe.

PMID 9288096 1997 The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

rs1182 in TOR1A gene and Prostate carcinoma PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.