gene 3,432 words KG: TOR1A
Contents

TOR1A Gene

🧬 Gene Info
Gene SymbolTOR1A
Full NameTorsin-1A
Chromosome9q34.11
Functionis a glutamate deletion (ΔE302/303) that causes early-onset generalized dystonia (DYT1), one of the most common hereditary movement disorders [2](https://pubmed.
Subcellular LocalizationTorsin-1A exhibits distinctive subcellular localization:
Molecular Weight38 kDa
Amino Acids332 aa
UniProt ID[O95631](https://www.uniprot.org/uniprot/O95631)
Ensembl IDENSG00000136827
OMIM605204
GeneCardsTOR1A
Human Protein AtlasTOR1A
N-terminal domainSignal peptide directing ER localization
ATPase domainClassic AAA+Walker A (P-loop) and Walker B motifs
C-terminal regionInvolved in protein-protein interactions
Associated DiseasesAls
KG Connections10 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

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🌐 Cross-references

NCBI GeneUniProtGeneCardsWikipediaHGNCEnsembl

Knowledge Graph (10 edges)

GCH1 associated_with TOR1A
THAP1 associated_with TOR1A
ANO3 associated_with TOR1A
GNAL associated_with TOR1A
ANXIETY contributes_to TOR1A
DEPRESSION contributes_to TOR1A
TOR1A associated_with Als
TOR1A contributes_to Depression
TOR1A contributes_to Anxiety
TOR1A contributes_to Actin

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