Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about arsacs: 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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| Gene Symbol | ARSACS |
| Full Name | Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay |
| Chromosome | 13q12.12 |
| Function | Pathogenic variants result in reduced or absent protein |
| Molecular Weight | 520 kDa |
| Amino Acids | 100 aa |
| UniProt ID | Q9BSJ2 |
| NCBI Gene ID | 51399 |
| Ensembl ID | ENSG00000040608 |
| OMIM | 270550 |
| GeneCards | ARSACS |
| Human Protein Atlas | ARSACS |
| Associated Diseases | Alzheimer's disease, Parkinson's disease |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
graph TD
A["Regulatory elements"] --> B["arsacs gene"]
B --> C["mRNA transcript"]
C --> D["Protein product"]
D --> E["Cellular function"]
E --> F["Disease relevance"]
B --> G["Variant effects"]
G --> F
classDef gene fill:#1a3a2a,stroke:#4caf50,color:#e0e0e0
classDef protein fill:#1a2a3a,stroke:#4fc3f7,color:#e0e0e0
class B gene
class D protein| Target | Relation | Type | Str |
|---|---|---|---|
| benchmark_ot_ad_answer_key:ARSACS | data_in | dataset_row | 0.00 |
| Source | Relation | Type | Str |
|---|---|---|---|
| benchmark_ot_ad_answer_key:ARSACS | data_in | dataset_row | 0.00 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
|---|---|---|---|---|---|---|---|
| No experiments found | |||||||
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||
Multi-agent debates referencing this entity
No debates reference this entity
Hypotheses and analyses mentioning arsacs in their description or question text
No additional research found