This gene was identified as a locus frequently mutated inhereditary nonpolyposis colon cancer (HNPCC). It is a human homologof the E. coli DNA mismatch repair gene mutL, consistent with thecharacteristic alterations in microsatellite sequences(RER+phenotype) found in HNPCC. Alternative splicing results inmultiple transcript variants encoding distinct isoforms. Additionaltranscript variants have been described, but their full-lengthnatures have not been determined.
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