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
  • PMS1 protein homolog 1
  • DNA mismatch repair protein PMS1
  • PMS1 postmeiotic segregation increased 1
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Properties