PMS1 homolog 1, mismatch repair system component (PMS1)

PMS1 homolog 1 (abbreviated as PMS1) is an enzyme that is part of the DNA mismatch repair (MMR) system, classified within the mutL/hexB protein family[1][2][4]. PMS1 forms heterodimers with MLH1, another key mismatch repair protein, to correct base mispairing and insertion/deletion loops during DNA replication[2][4][7]. Mutations in PMS1 can compromise genomic stability and are associated with hereditary nonpolyposis colorectal cancer type 3 (HNPCC3), also called Lynch syndrome[2][4]. While PMS1 is critical for maintaining DNA integrity, it is not recognized as a current therapeutic target for drug development, and there are no approved drugs known to directly interact with or modulate its activity[2][5][7]. Its chief clinical importance lies in its use as a biomarker in genetic testing for Lynch syndrome and related cancers[2][4].

Other names

hPMS1PMSL1PMS1 protein homolog 1