Contents

TOR1A Gene

🧬 Gene Info

Gene Symbol	TOR1A
Full Name	Torsin-1A
Chromosome	9q34.11
Function	is a glutamate deletion (ΔE302/303) that causes early-onset generalized dystonia (DYT1), one of the most common hereditary movement disorders [2](https://pubmed.
Subcellular Localization	Torsin-1A exhibits distinctive subcellular localization:
Molecular Weight	38 kDa
Amino Acids	332 aa
UniProt ID	[O95631](https://www.uniprot.org/uniprot/O95631)
Ensembl ID	ENSG00000136827
OMIM	605204
GeneCards	TOR1A
Human Protein Atlas	TOR1A
N-terminal domain	Signal peptide directing ER localization
ATPase domain	Classic AAA+Walker A (P-loop) and Walker B motifs
C-terminal region	Involved in protein-protein interactions
Associated Diseases	Als
KG Connections	10 knowledge graph edges
Databases	GeneCards NCBI Gene HPA STRING

Knowledge Graph