This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined.
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Protein Aliases: DNA mismatch repair protein Mlh3; MGC138372; MutL protein homolog 3
Gene Aliases: AV125803; BB126472; HNPCC7; MLH3
UniProt ID: (Human) Q9UHC1