| Gene Symbol | POT1 |
| Full Name | Protection of Telomeres 1 |
| Chromosome | 7q31.33 |
| Function | is a critical component of the shelterin complex that protects telomeres from inappropriate DNA repair and regulates telomerase access. |
| Primary Expression | Ubiquitous, highest in testis, lymphoid tissues |
| Amino Acids | 634 aa |
| Pathways | Telomere |
| UniProt ID | Q9H2R9 |
| NCBI Gene ID | 54281 |
| Ensembl ID | ENSG00000128513 |
| OMIM | 607713 |
| GeneCards | POT1 |
| Human Protein Atlas | POT1 |
| Associated Diseases | Als, Cancer, Melanoma, Ovarian Cancer, Pancreatic Cancer |
| Interactions | ATM, BRAF, CANCER, CDK4, CDKN2A, COMPLEMENT |
| KG Connections | 51 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!