PMS2 Gene

The PMS2 gene (PMS2 stands for "PMS1 Homolog 2, Mismatch Repair System Component") is a protein-coding gene located on chromosome 7p22.1. The protein encoded by this gene is a key component of the mismatch repair system, which serves to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination.

This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses endonucleolytic activity, which is activated upon recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers and is required for elimination of mismatched DNA. It is also involved in DNA damage signaling, a process that triggers cell cycle arrest and can lead to apoptosis in the case of major DNA damage.

Diseases associated with PMS2 include Mismatch Repair Cancer Syndrome 4 and Colorectal Cancer, Hereditary Nonpolyposis, Type 4.

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