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MLH1 is a DNA mismatch repair protein. The repair of mismatch DNA is essential to maintaining the integrity of genetic information over time. An alteration of microsatellite repeats is the result of slippage owing to strand misalignment during DNA replication and is referred to as microsatellite instability (MSI). These defects in DNA repair pathways have been related to human carcinogenesis. The importance of mismatch repair genes became apparent with the identification of the genetic basis for hereditary nonpolyposis colon cancer (HNPC). MSHS2 is involved in the initial cognition of mismatch nucleotides during the replication mismatch repair process. It is thought that after MSH2 binds to a mismatched DNA duplex it is joined by a heterodimer of MLH1 and PMSH, which together help facilitate the later steps in mismatch repair.
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Protein Aliases: DNA mismatch repair protein Mlh1; MGC5172; MLH-1; mutL homolog 1, colon cancer, nonpolyposis type 2; MutL protein homolog 1
Gene Aliases: COCA2; FCC2; hMLH1; HNPCC; HNPCC2; MLH1
UniProt ID: (Human) P40692
Entrez Gene ID: (Human) 4292
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