Target intelligence / Profile preview

DNA mismatch repair (MMR)

Target
MMR
Molecular classification
Other (multienzyme DNA repair pathway; not classified as enzyme, receptor, transporter, channel, or transcription factor)
01

Overview

DNA mismatch repair (MMR) is a highly conserved, multi-protein pathway responsible for detecting and correcting mismatches and small insertion/deletion loops resulting from DNA replication errors or recombination, ensuring the fidelity of genetic information. The pathway involves recognition (MutS/MutL homologs in eukaryotes), excision, resynthesis, and ligation steps. MMR defects lead to microsatellite instability, predisposition to certain cancers (notably Lynch syndrome/colorectal cancer), and have important roles in DNA damage response, meiosis, and suppression of recombination between divergent DNA sequences.

Other names
MMRmismatch repair pathwayDNA mismatch repair system
02

Biological functions

Genomic stability maintenanceDNA repairDNA damage responseSuppression of recombination between divergent sequencesPromotion of proper meiosis
03

Disease associations

Cancer (notably hereditary nonpolyposis colorectal cancer / Lynch syndrome and sporadic tumors)Genome instability disordersNeurological and neurodegenerative disease (via trinucleotide repeat expansion syndromes)Sterility and meiosis defects
04

Safety considerations

Increased mutagenesis and carcinogenesis with deficiencyChemotherapy resistance or hypermutator status in deficient tumors
05

Biomarkers

Loss of nuclear expression of mismatch repair proteins (e.g., MLH1, MSH2, MSH6, PMS2) by immunohistochemistryMicrosatellite instability (MSI-high status) as a genomic biomarker

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