Gene MLH1
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Also known as
MutL homolog 1, DNA mismatch repair protein MLH1, COCA2, HNPCC2Overview
MLH1 (MutL Homolog 1) encodes a key component of the DNA mismatch repair (MMR) system. MLH1 forms heterodimers with other MMR proteins (PMS2, PMS1, MLH3) to recognize and repair errors that occur during DNA replication. This DNA proofreading function is essential for maintaining genomic stability and preventing mutations from accumulating.Mutations in MLH1 are the most common cause of Lynch syndrome (hereditary nonpolyposis colorectal cancer, HNPCC), which significantly increases lifetime risk of colorectal, endometrial, ovarian, and other cancers. MLH1 can also be silenced by promoter methylation in sporadic cancers. Lynch syndrome carriers benefit from enhanced cancer surveillance protocols.
Understanding your MLH1 genetic status provides insights into DNA repair capacity and hereditary cancer risk. This information is critically important for individuals with family history of Lynch syndrome-associated cancers, as it guides surveillance strategies and preventive measures.