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.
