PMS2 heterodimerizes with MLH1 to form the MutL alpha complex involved in DNA mismatch repair.
Two variants PMS2 ARG134TER and PMS2 ARG628TER are described here. Both variants were associated with mismatch repair deficiencies in separate individuals including: colonic adenomas, lymphoma of the rectum, glioblastoma, and multiple cafe-au-lait spots (Hamilton et al., 1995). Genetic analysis of the tumor identified a heterozygous C-to-T transition in the PMS2 gene, resulting in the PMS2 ARG134TER (R134X) substitution. The PMS2 ARG628TER variant was identified as a heterozygous 2-bp deletion in exon 13, within a repeated dinucleotide (CTCT) at codon 728-729 (De Vos et al., 2004). Both variants inherited in an autosomal recessive fashion.