| Gene Symbol | C9ORF72DIPEPTIDEREPEATPROTEINS |
| Aliases | C9ORF72DIPEPTIDEREPEATPROTEINS |
| Poly-GA | Forms the most abundant inclusions, disrupting proteostasis by sequestering ubiquitin and proteasomes[@zhang2014] |
| Poly-GR/PR | Interfere with nucleocytoplasmic transport, bind to RNA-processing proteins, and cause nucleolar stress[@kwon2014] |
| Poly-PA | Contributes to stress granule formation and liquid-liquid phase separation[@lee2016] |
| RNA toxicity | RNA foci sequester RNA-binding proteins, disrupting normal RNA processing |
| Protein toxicity | DPR inclusions impair cellular proteostasis and organelle function |
| Loss of C9orf72 function | The repeat expansion reduces normal C9orf72 protein expression, affecting lysosomal and autophagic function[@frick2018] |
| Associated Diseases | demyelination, neurodegeneration |
| KG Connections | 3 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!
No comments yet. Be the first to comment!