gene 667 words KG: MLH1 2026-03-21
kind:genesection:genesstate:published
Contents

MLH1 Gene

🧬 Gene Info
Gene SymbolMLH1
Full NameMutL Homolog 1
Chromosome3p22.2
FunctionMLH1 (MutL Homolog 1) encodes a key DNA mismatch repair (MMR) protein that is essential for maintaining genomic stability.
PathwaysApoptosis, epigenetic regulation, oxidative stress response
UniProt ID[P40692](https://www.uniprot.org/uniprot/P40692)
Ensembl IDENSG00000082142
GeneCardsMLH1
Human Protein AtlasMLH1
PMS2 GeneMLH1 binding partner and essential MMR component
MSH2/MSH6 and MSH3 GenesMutS homolog proteins recognizing initial mismatches
Huntington's DiseasePrimary polyglutamine disease showing MLH1-dependent repeat instability
Lynch SyndromeCancer predisposition disorder from MLH1 mutations
DNA Mismatch Repair PathwayCore cellular mechanism requiring MLH1
Associated DiseasesAls, COLORECTAL CANCER, Cancer, Gastric Cancer
InteractionsCGAS, HUNTINGTIN, STING, TP53, ARID1A, APC
KG Connections141 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

Knowledge Graph