MMR genes mutations (PMS2) PMS2 (postmeiotic Segregation Increased 2) gene, located on 7p22.2, encodes the PMS2 protein that binds to the MLH1 protein to form a protein complex involved in repairing of DNA replication errors. Mutations of this gene have been found in 2% of patients with Lynch syndrome.
MMR genes mutations (MSH6) MSH6 gene (MutS homolog 6), located on 2p16, encodes a protein that forms a complex with the MMR genes encoded proteins, which coordinates the activity of other proteins that repair DNA replication errors. MSH6 protein binds to the MSH2 protein to form an active complex, if are mutations the abnormal protein
MMR genes mutations (MSH2) MSH2 (MutS, homolog 2) gene located on region 2p21, leads a protein that coordinates DNA repair function in a similar way as described for the MLH1 gene. MSH2 protein binds to two other proteins, MSH6 and MSH3, and the complex coordinates the action of other repair proteins, as described for the
Mutations in MMR genes (MLH1) MLH1 (mutL Homology 1) gene, located on 3p21.3, encodes a protein that plays an essential role in DNA repair. MLH1 protein forms a complex with the protein encoded by the PMS2 gene, and the active complex coordinates the activities of other proteins that repair errors made during DNA replication. More
