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DYT4

AD

dystonia 4, torsion (autosomal dominant)

The protein function for DYT4 is not well characterized, as this locus has been mapped but the causative gene has not been definitively identified. Mutations cause autosomal dominant torsion dystonia with childhood to adolescent onset, typically presenting as focal dystonia that may generalize. This form of dystonia shows variable expressivity and reduced penetrance within affected families.

OMIMResearchSummary from OMIM
GOFmechanismAD1 OMIM phenotype
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DYT4?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DYT4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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