Gene Detail

Gene Symbol PMS2
Synonyms HNPCC4 | MLH4 | PMS2CL | PMSL2
Gene Description PMS2, mismatch repair endonuclease PMS2, interacts with MLH1 to form the MutL-alpha complex, which functions in DNA mismatch repair (PMID: 18157157, PMID: 24333356) and is associated with microsatellite instability (MSI) (PMID: 30121009) . Germline PMS2 mutations are associated with Lynch syndrome (PMID: 15528792), mutations in PMS2 are associated with susceptibility to colon cancer and endometrial cancer (PMID: 24978665), and overexpression has been reported in prostate cancer (PMID: 27803051).
Entrez Id 5395
Chromosome 7
Map Location 7p22.1
Canonical Transcript NM_000535


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