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.

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 …

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.

2022年8月23日 · An error, or mutation, in one copy of the MLH1 gene is one of the causes of Lynch syndrome, an inherited disorder that raises a person’s risk of developing colorectal cancer and endometrial...

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.

2024年8月29日 · People with Lynch syndrome due to an MLH1 mutation may have different options for cancer treatment. Learn about the treatment options for people with mutations in this gene.

2024年9月6日 · Read about the latest expert guidelines for cancer screening and prevention for people with an MLH1 mutation. Learn about research studies enrolling high-risk patients.

Missense alterations of the mismatch repair gene MLH1 have been identified in a significant proportion of individuals suspected of having Lynch syndrome, a hereditary syndrome which predisposes for cancer of colon and endometrium. The pathogenicity of many of these alterations, however, is unclear.

2024年12月25日 · MLH1 (MutL Homolog 1) is a Protein Coding gene. Diseases associated with MLH1 include Mismatch Repair Cancer Syndrome 1 and Lynch Syndrome 2. Among its related pathways are DNA repair pathways, full network and Gene expression (Transcription).

LS patients carry germline loss of function (LoF) variants in one of the four key genes involved in MMR: MutL homolog 1 (MLH1), MutS homolog 2 (MSH2), postmeiotic segregation increased 2 (PMS2) and MutS homolog 6 (MSH6).