Aliases for PMS1 Gene
External Ids for PMS1 Gene
Previous HGNC Symbols for PMS1 Gene
Previous GeneCards Identifiers for PMS1 Gene
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]
GeneCards Summary for PMS1 Gene
PMS1 (PMS1 Homolog 1, Mismatch Repair System Component) is a Protein Coding gene. Diseases associated with PMS1 include pms1-related lynch syndrome and cervical adenoma malignum. Among its related pathways are Mismatch repair. GO annotations related to this gene include ATPase activity and mismatched DNA binding. An important paralog of this gene is PMS2.
UniProtKB/Swiss-Prot for PMS1 Gene
Probably involved in the repair of mismatches in DNA.