Variant: rs267607134 

    present in Gene: TOR1A
    present in Chromosome: 9
    Position on Chromosome: 129818752
    Alleles of this Variant: A/T

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.