PMS1, Official Symbol PMS1provided by HGNC Official Full Name PMS1 homolog 1, mismatch repair system componentprovided by HGNC Primary source HGNC:HGNC:9121 See related Ensembl:ENSG00000064933 MIM:600258; AllianceGenome:HGNC:9121 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 MLH2; PMSL1; hPMS1; HNPCC3 Summary This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 8.3), endometrium (RPKM 3.7) and 24 other tissues See more Orthologs mouse all