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This gene is one of the PMS2 gene family members which are found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. The protein forms a heterodimer with MLH1 and this complex interacts with MSH2 bound to mismatched bases. Defects in this gene are associated with hereditary nonpolyposis colorectal cancer and Turcot syndrome. So joint detection of MLH1, MSH2, PMS2, and MSH6 can be used for screening of hereditary non polypic colon cancer （Lynch syndrome）.