Inactivating PMS2 Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the PMS2 gene that either inhibits expression or results in the translation of an inactive mismatch repair endonuclease PMS2 protein.

**Synonyms:** - Loss of Function HNPCC4 Gene Mutation - Loss of Function MLH4 Gene Mutation - Loss of Function PMS1 Homolog 2, Mismatch Repair System Component Gene Mutation - Loss of Function PMS2 Gene Mutation - Loss of Function PMS2 Mutation - Loss of Function PMS2CL Gene Mutation - Loss of Function PMSL2 Gene Mutation - Loss of Function Postmeiotic Segregation Increased 2 Gene Mutation - PMS2 Gene Inactivation - PMS2 Loss of Function Gene Mutation - PMS2 Loss of Function Mutation - PMS2 Mismatch Repair Gene Inactivation