PMS1(redirected from DNA mismatch repair protein PMS1)
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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.