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DYT9
Chr 1ADsolute carrier family 2 member 1
Also known as: CSE, DYT17, DYT18, DYT9, EIG12, GLUT, GLUT-1, GLUT1
This gene encodes a major glucose transporter in the blood-brain barrier that is located primarily in cell membranes and on cell surfaces. Mutations cause dystonia 9, characterized by paroxysmal exertion-induced dyskinesia with autosomal dominant inheritance. The dystonic episodes are specifically triggered by physical exertion.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DYT9?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
DYT9 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools