| Gene Symbol | MLH1 |
| Full Name | MutL Homolog 1 |
| Chromosome | 3p22.2 |
| Function | MLH1 (MutL Homolog 1) encodes a key DNA mismatch repair (MMR) protein that is essential for maintaining genomic stability. |
| Pathways | Apoptosis, epigenetic regulation, oxidative stress response |
| UniProt ID | [P40692](https://www.uniprot.org/uniprot/P40692) |
| Ensembl ID | ENSG00000082142 |
| GeneCards | MLH1 |
| Human Protein Atlas | MLH1 |
| PMS2 Gene | MLH1 binding partner and essential MMR component |
| MSH2/MSH6 and MSH3 Genes | MutS homolog proteins recognizing initial mismatches |
| Huntington's Disease | Primary polyglutamine disease showing MLH1-dependent repeat instability |
| Lynch Syndrome | Cancer predisposition disorder from MLH1 mutations |
| DNA Mismatch Repair Pathway | Core cellular mechanism requiring MLH1 |
| Associated Diseases | Als, cancer, Colorectal Cancer, Gastric Cancer |
| Interactions | APC, APOPTOSIS, ARID1A, CANCER, CGAS, CGAS-STING |
| KG Connections | 137 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!