This gene 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 the 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.
ATP binding; ATPase activity; contributes_to MutSalpha complex binding; guanine/thymine mispair binding; mismatched DNA binding; protein binding; contributes_to protein binding; contributes_to single-stranded DNA binding;