DNA mismatch repair protein Mlh1 or MutL protein homolog 1 is a protein that in humans is encoded by the MLH1 gene located on chromosome 3. The gene is commonly associated with hereditary nonpolyposis colorectal cancer. Orthologs of human MLH1 have also been studied in other organisms including mouse and the budding yeast Saccharomyces cerevisiae.

Jul 12, 2023 · If you both have a mutation in the MLH1 gene, there’s a chance your child could be born with a rare but serious condition called Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome. CMMR-D syndrome causes a higher risk for childhood cancers.

The MLH1 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division.

Studies show that men and women with an MLH1 mutation have between a 46 and 61 percent risk of developing colon or rectal cancer during their lifetime. Women with the defect have between a 34 and...

People with an MLH1 mutation who have been diagnosed with cancer may benefit from biomarker testing and may qualify for clinical trials looking for more effective treatments for cancer. The following are examples of situations where an MLH1 mutation may play a part in treatment decision-making.

MLH1 is a gene that produces a protein involved in DNA repair, specifically in a process called mismatch repair. This protein works closely with other mismatch repair proteins, including PMS2, MSH2, and MSH6, to detect and fix small errors that occur when DNA is copied in dividing cells.

Apr 7, 2025 · MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of …

Mar 30, 2025 · MLH1 is a tumor suppressor gene involved in DNA mismatch repair. Germline mutations in this gene are known to cause Lynch syndrome. The most common malignancies in Lynch syndrome are colorectal and endometrial carcinomas.

Apr 7, 2021 · MLH1 gene encodes the MLH1 protein, which plays an essential role in postreplication DNA mismatch repair (Cell Res 2008;18:85) MLH1 forms a 2 protein complex with PMS2; this dimer, named MutL alpha, helps to repair …

Mar 24, 2025 · Risk Management for People with an Inherited MLH1 Mutation. Experts at the National Comprehensive Cancer Network (NCCN) created guidelines for people with an MLH1 mutation to manage their cancer risk. This section covers risk-management guidelines for the following cancers: