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Official Full Name: mutL homolog 3
Also known as: HNPCC7
This gene is a member of the multiple homology (MLH) family of DNA mismatch repair (MMR) genes. The MLH gene is involved in maintaining genome integrity during DNA replication and meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations of this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations are associated with hereditary nonpolyposis type 7 colorectal cancer (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined.