gene

DYT1

Entity Detail — Knowledge Graph Node

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This page aggregates everything SciDEX knows about DYT1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

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Summary

DYT1 Gene

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🧬 Gene Info

Gene Symbol	DYT1 / TOR1A
Full Name	Torsin Family 1 Member A
Chromosome	9q34.2
Function	DYT1 (also known as TOR1A) encodes torsin-1A, an AAA+ ATPase family member located primarily in the endoplasmic reticulum and nuclear envelope.
Primary Expression	the brain with highest levels in: - Basal ganglia (caudate nucleus, putamen) - Cerebellum (Purkinje cells) - Cortex (layers II-III, V) - [Hippocampus]
Subcellular Localization	the endoplasmic reticulum and nuclear envelope. Mutations in DYT1 cause early-onset generalized dystonia (DYT1 dystonia)
UniProt ID	Q9UHD8
NCBI Gene ID	1896
Ensembl ID	ENSG00000136827
OMIM	605204
Neurotransmitter release	Modulates dopamine release in the striatum
Cytoskeletal organization	Interacts with the actin cytoskeleton
Protein quality control	Involved in ER-associated degradation (ERAD)
Axonal transport	Regulates microtubule-based vesicle trafficking
Synaptic vesicle cycling	Important for synaptic vesicle recycling
Associated Diseases	neurodegeneration
Databases	GeneCards HPA STRING

🔮 Predicted Structure: DYT1 — AlphaFold Q9UHD8 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

DYT1 Gene

gene · 566 words

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Pathway Diagram

graph TD
    DYT1["DYT1"]
    neurodegeneration["neurodegeneration"]
    DYT1 -->|"implicated_in"| neurodegeneration
    style DYT1 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0

Outgoing (0)

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Incoming (0)

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Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

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Mentioning Analyses (0)

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Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
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Related Papers (0)

Scientific publications cited in analyses involving this entity

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Debates (0)

Multi-agent debates referencing this entity

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Related Research

Hypotheses and analyses mentioning DYT1 in their description or question text

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