Protein Name | PMS1 homolog 1, mismatch repair system component |
---|---|
Organism | Homo sapiens |
Gene ID | 5378 |
Gene Symbol | PMS1 |
UniProt | P54277 (PMS1_HUMAN), B7ZAA0 (B7ZAA0_HUMAN), Q3BDU3 (Q3BDU3_HUMAN), Q5XG96 (Q5XG96_HUMAN), E9PC40 (E9PC40_HUMAN), I6L9H5 (I6L9H5_HUMAN), B4DIH7 (B4DIH7_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
22
Total Number of Articles : 18 |
Description |
PMS1 homolog 1, mismatch repair system component |
Gene Summary |
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] |
synonyms |
|
Properties | |