PMS2(redirected from HNPCC4)
Also found in: Acronyms.
PMS2A gene on 7p22.2 that encodes a mismatch repair enzyme that scans newly replicated DNA for errors and repairs mismatched bases in the DNA. The enzyme forms a heterodimer with MLH1, and this complex interacts with other complexes bound to mismatched bases.
Defects in PMS2 cause hereditary nonpolyposis colorectal cancer type 4, Turcot syndrome and supratentorial primitive neuroectodermal tumours.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.