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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: HNPCC3; hPMS1; MLH2; PMS1; PMSL1
UniProt ID: (Human) P54277
Entrez Gene ID: (Human) 5378