gene 566 words KG: DYT1 2026-03-20
kind:genesection:genesstate:published
Contents

DYT1 Gene

🧬 Gene Info
Gene SymbolDYT1 / TOR1A
Full NameTorsin Family 1 Member A
Chromosome9q34.2
FunctionDYT1 (also known as TOR1A) encodes torsin-1A, an AAA+ ATPase family member located primarily in the endoplasmic reticulum and nuclear envelope.
Primary Expressionthe brain with highest levels in: - Basal ganglia (caudate nucleus, putamen) - Cerebellum (Purkinje cells) - Cortex (layers II-III, V) - [Hippocampus]
Subcellular Localizationthe endoplasmic reticulum and nuclear envelope. Mutations in DYT1 cause early-onset generalized dystonia (DYT1 dystonia)
UniProt IDQ9UHD8
NCBI Gene ID1896
Ensembl IDENSG00000136827
OMIM605204
Encoded ProteinTorsin-1A
Associated Diseasesneurodegeneration
DatabasesGeneCardsHPASTRING

Knowledge Graph