PMS1 belongs to the DNA mismatch repair mutL/hexB family. It is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in PMS1 cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other proteins involved in the HNPCC phenotype, which is also known as Lynch syndrome (1).
1. Entrez Gene: gene-centered information at NCBI. Nucleic Acids Res. 2005 Jan 1;33:D54-8.
