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.

2023年7月12日 · 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.

2024年12月25日 · 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.

2022年8月23日 · 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...

2024年9月6日 · People with an inherited MLH1 mutation have an increased risk for many cancers, especially of the large intestine (the colon and the rectum) and uterus (endometrium). Expert guidelines include estimates of the lifetime cancer risks for people with MLH1 mutations.

2024年8月29日 · 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.

2025年2月20日 · 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 …

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.

The human-yeast hybrid genes MLH1_h(41-86) and MLH1_h(77-134) encode chimeric MLH1 proteins that contain 46 and 58 amino acid regions, respectively, of human MLH1p replacing the homologous region of yeast MLH1p.