| Gene Symbol | C9ORF72 |
| Chromosome | chromosome 9p21.2. |
| Protein Type | Protein |
| Function | is a 481-amino acid protein with an approximate molecular weight of 54 kDa. |
| Primary Expression | Normal and Neoplastic cells) domain family, functioning as a guanine nucleotide exchange factor (GEF) for Rab GTPases involved in endolysosomal traffi |
| Molecular Weight | 54 kDa |
| Pathways | Apoptosis, Autophagy, Er Stress, LYSOSOMES, Microbiota |
| UniProt ID | Search UniProt |
| GeneCards | C9ORF72 |
| Human Protein Atlas | C9ORF72 |
| Pathogenic element | non-coding GGGGCC repeat expansion. |
| Inheritance | autosomal dominant with age-dependent penetrance and variable expressivity. |
| Associated Diseases | Aging, Als, ALS/FTD, Alzheimer, Alzheimer's Disease |
| Known Drugs/Compounds | Antisense oligonucleotides, BIIB078 |
| Interactions | ACTB, Actin, AKT, ALS, ALS2, ALS-CAUSING MUTATIONS |
| SciDEX Hypotheses | C9ORF72 autophagy-lysosome collapse across ALS and ASO-mediated reduction of toxic C9orf72 dipeptide C9orf72 ASO Treatment Reverses TDP-43 Pathology in (+6 more) |
| KG Connections | 1441 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
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