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DYT3

Chr XXLR

dystonia 3 (with Parkinsonism)

Also known as: XDP

The DYT3 gene encodes TAF1, a component of the TFIID transcription factor complex that regulates RNA polymerase II-mediated gene transcription. Mutations cause X-linked dystonia-parkinsonism (also known as Lubag disease), a progressive movement disorder typically beginning in adulthood with dystonia that may later develop parkinsonian features. The condition follows X-linked recessive inheritance, primarily affecting males.

OMIMResearchSummary from OMIM
LOFmechanismXLR1 OMIM phenotype
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DYT3?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

DYT3 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

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