MLH1 was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC).It is a human homolog of the E.coli DNA mismatch repair gene mutL, consistent with characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.

MLH1; COCA2; DNA mismatch repair protein Mlh1; MutL protein homolog 1