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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: DNA mismatch repair protein PMS1; human homolog of yeast mutL; mismatch repair gene PMSL1; PMS1 postmeiotic segregation increased 1; PMS1 protein homolog 1; rhabdomyosarcoma antigen MU-RMS-40.10B; rhabdomyosarcoma antigen MU-RMS-40.10E
Gene Aliases: HNPCC3; hPMS1; MLH2; PMS1; PMSL1
UniProt ID: (Human) P54277
Entrez Gene ID: (Human) 5378
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