MLH1, Official Symbol MLH1provided by HGNC Official Full Name mutL homolog 1provided by HGNC Primary source HGNC:HGNC:7127 See related Ensembl:ENSG00000076242 MIM:120436; AllianceGenome:HGNC:7127 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 FCC2; COCA2; HNPCC; MLH-1; hMLH1; HNPCC2; LYNCH2; MMRCS1 Summary The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in testis (RPKM 17.8), thyroid (RPKM 13.3) and 25 other tissues See more Orthologs mouse all