| Gene Symbol | ent-gene-83d99ff1 |
| Chromosome | 16p11.2. |
| Function | - Reduced mitochondrial transport along axons |
| N-terminal low-complexity domain (LCD) | intrinsically disordered region prone to phase separation |
| RNA recognition motif (RRM) | binds RNA molecules |
| Multiple zinc finger motifs | nucleic acid binding |
| C-terminal proline-rich region | protein-protein interactions |
| Transcription regulation | modulates gene expression through interaction with transcription factors |
| Alternative splicing | influences splice site selection |
| RNA transport | facilitates mRNA trafficking |
| DNA damage response | involved in repair mechanisms |
| Earlier disease onset | mean age 44 years vs. 56 years for sporadic ALS |
| Rapid progression | median survival 20-30 months from symptom onset |
| Bulbar onset more common | approximately 40% of cases |
| Prominent cognitive involvement | up to 30% develop FTD |
| Less prominent pseudobulbar affect | compared to SOD1-ALS |
| KG Connections | 14 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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