PMS1

(redirected from PMSL1)

PMS1

A 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.

Molecular pathology
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.