PMS1(redirected from PMS1 protein homolog 1)
PMS1A human homologue of the Saccharomyces cerevisiae DNA mismatch repair gene, located on chromosome 2q31-q33, which encodes an enzyme that scans newly replicated DNA for errors and repairs mismatched base pairs.
A germline mutation of MLH1 occurs in ± 1% of patients with hereditary nonpolyposis colon cancer. Defects in MLH1 also cause mismatch repair cancer syndrome, Muir-Torre syndrome, and increase susceptibility to endometrial cancer.
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