Description

The protein encoded by MLH1 gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. Heterozygous mutations in the MLH1 gene result in hereditary nonpolyposis colorectal cancer-2 (Papadopoulos et al., 1994).

External Information

Click here for more information about the MLH1 whole gene NGS genetic test.