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DYT1

Chr 9

torsin family 1 member A

Also known as: AMC5, DQ2, DYT1

NCBI Gene: 1861 UniProt: O14656

The protein functions as an AAA family ATPase with chaperone activity, controlling protein folding, synaptic vesicle recycling, and nuclear envelope integrity, with prominent expression in the substantia nigra. Mutations cause autosomal dominant torsion dystonia with early onset (childhood to young adulthood), primarily affecting movement through disruption of basal ganglia circuits. This is a well-characterized dystonia gene with established clinical guidelines available through GeneReviews.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDystonia 1, torsion, autosomal dominant

UniProtArthrogryposis multiplex congenita 5

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

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GeneReview available — DYT1