MLH3, Official Symbol MLH3provided by HGNC Official Full Name mutL homolog 3provided by HGNC Primary source HGNC:HGNC:7128 See related Ensembl:ENSG00000119684 MIM:604395; AllianceGenome:HGNC:7128 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HNPCC7 Summary 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. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 5.0), adrenal (RPKM 3.9) and 25 other tissues See more Orthologs mouse all