Analysis of PMS2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1853-LGZ)

Introduction

Official Full Name: PMS1 homolog 2, mismatch repair system component
Also known as: MLH4; PMS-2; PMSL2; HNPCC4; LYNCH4; MMRCS4; PMS2CL
The protein encoded by this gene is a key component of the mismatch repair system, which functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms a heterodimer with the gene product of mutL homolog 1 (MLH1), forming a mutL-alpha heterodimer. The mutl-α heterodimer has endolytic activity, is activated after recognition of mismatches and insertion/deletion loops by muts-α and muts-β heterodimers, and is required for removal of mismatched DNA. The DQHA(X)2E(X)4E motif, which forms part of the nuclease active site, is found at the C-terminus of the protein encoded by this gene. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome.