Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

DYT6

Chr 8AD

dystonia 6, torsion (autosomal dominant)

NCBI Gene: 1865 OMIM: 602629

The protein encoded by this gene functions as a transcriptional regulator involved in neuronal development and maintenance. Mutations cause dystonia 6, a form of torsion dystonia that typically presents in childhood or adolescence and often begins with involvement of the cranial-cervical muscles before potentially generalizing. The condition follows an autosomal dominant inheritance pattern with reduced penetrance.

OMIM ResearchSummary from OMIM

OMIM ResearchGenerating clinical summary…

LOFmechanismAD1 OMIM phenotype

Clinical Summary— DYT6

💊

Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DYT6?content-type=application/json&expand=1

gnomad: Error: Gene not found