PMS1( Human )

Entrez Gene 5378 Entrez Gene 5378
PMS1 homolog 1, mismatch repair system component

Alias

HNPCC3|MLH2|PMSL1|hPMS1

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].

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