This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012],COCA1, FCC1, HNPCC, HNPCC1, LCFS2,Apoptosis,Cancer,Cell Biology & Developmental Biology,DNA Damage & Repair,Epigenetics & Nuclear Signaling,Tumor suppressors,MSH2