PMS2 [SEP] chromosome
PMS2
Mismatch repair endonuclease PMS2 is an enzyme that in humans is encoded by the "PMS2" gene.
Function.
This gene is one of the PMS2 gene family members which are found in clusters on chromosome 7. Human PMS2 related genes are located at bands 7p12, 7p13, 7q11, and 7q22. Exons 1 through 5 of these homologues share high degree of identity to human PMS2 The product of this gene is involved in DNA mismatch repair. The protein forms a heterodimer with MLH1 and this complex interacts with
cause confusion when identifying mutations in PMS2, leading to false positive conclusions of the presence of mutated PMS2.
Clinical significance Deficiency and overexpression.
Overexpression of PMS2 results in hypermutability and DNA damage tolerance. Deficiency of PMS2 also contributes to genetic instability by allowing for mutations to propagate due to reduced MMR function. It has been shown that PMS2-/- mice developed lymphomas and sarcomas. It was also shown that male mice that are PMS2-/- are sterile, indicating that PMS2 may have a role in spermatogenesis.
Clinical significance Role in normal colon.