| Gene Symbol | NBN (NBS1) |
| Full Name | Nibrin |
| Aliases | NBN |
| Chromosome | 8q21.11 |
| Function | Nibrin is a key mediator in the recognition and repair of DNA double-strand breaks (DSBs), which are among the most cytotoxic forms of DNA damage |
| Pathways | Apoptosis, Complement, Exocytosis, Mitochondrial Function |
| UniProt ID | [O15144](https://www.uniprot.org/uniprot/O15144) |
| Ensembl ID | ENSG00000104320 |
| DNA Damage Recognition | NBS1 is the sensor component that localizes to sites of DNA damage |
| MRN Complex Formation | Forms a heterotrimeric complex with MRE11 and RAD50 |
| Signal Transduction | Activates ATM kinase, initiating the DNA damage response cascade |
| End Resection | Works with MRE11 to process DNA ends for repair |
| Checkpoint Activation | Facilitates phosphorylation of downstream targets including p53, Chk2, and H2AX |
| Homologous Recombination | Essential for error-free DNA repair during S and G2 phases |
| Non-Homologous End Joining | Regulates the choice between HR and NHEJ pathways |
| Associated Diseases | Als, Ataxia, Infection |
| KG Connections | 58 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
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