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DYT23

Chr 9AD

Dystonia 23

This gene encodes a protein involved in cellular calcium homeostasis and endoplasmic reticulum function. Mutations cause dystonia 23, an autosomal dominant movement disorder characterized by involuntary muscle contractions and abnormal postures. The dystonia typically affects the limbs and can have variable age of onset and severity even within families.

OMIMResearchSummary from OMIM
AD1 OMIM phenotype
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DYT23?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

DYT23 · 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
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Diagnosis and Management of Dystonia.
Shanker V et al.·Continuum (Minneap Minn)
2016Review
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found