PMS1

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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.
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References in periodicals archive ?
The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.
In cancer development, this phenomenon is clearly brought about by defects of a group of DNA mismatch repair genes, hMSH2, hMLH1, hPMS1, hPMS2, and GTBP [7].
These genes include hMSH2, hMLH1, hPMS1, hPMS2, and hMSH6/GTBP.
When specific repair enzymes (eg, hMLH1, hMSH2, hMSH3, hPMS1, hPMS2, and hMSH6) can no longer repair DNA that has been copied inaccurately, errors accumulate in the DNA and ultimately cause an increase in the mutation rate (Figure 2).