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FLASH GENE

Symbol

TOR1A

contributors: npt/mct/pgu - updated : 19-04-2010

HGNC name	torsin family 1, member A (torsin A)
HGNC id	3098

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DYT1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       GAG mutation, in early-onset recurrent major depression, independently of motor manifestations of dystonia

Susceptibility

to sporadic idiopathic dystonia

Variant & Polymorphism other	haplotype associated with sporadic idiopathic dystonia
	216H allele having highly protective effect in patients with the GAG deletion (increased in carriers without dystonia and decreased in carriers with dystonia)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology dystonia   specific small molecules that enhance TOR1A activity represent a promising new approach toward therapeutic development for torsion-dystonia, and potentially for other diseases involving the processing of mutant proteins

ANIMAL & CELL MODELS

	ectopic overexpression of both human and C. elegans torsin proteins results in a dramatic reduction of polyglutamine-dependent protein aggregation suggesting a role for torsins in managing protein folding
	It also suggest that breakdown in a neuroprotective mechanism that is, in part, mediated by torsins may be responsible for the neuronal dysfunction associated with dystonia