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 Postmeiotic Segregation Increased 1 (S. Cerevisiae)) is a Protein Coding gene. Diseases associated with PMS1 include pms1-related lynch syndrome and peutz-jeghers syndrome. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis. 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.