What does the PMS2 gene do?
The PMS2 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division.
What is PMS2 deficiency?
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.
What is MLH1 and PMS2?
MLH1 and PMS2 function as a stable heterodimer that, along with MSH2, MSH6 and EXO1, corrects small errors involving mispaired nucleotides which are introduced by DNA polymerase during DNA replication.
How common is PMS2?
There is a 50/50 random chance to pass on a PMS2 mutation to your sons and daughters.
What chromosome is PMS2?
The PMS2 (PMS1 homolog 2, mismatch repair system component) gene is located on chromosome 7. The PMS2 gene protein plays an important role in repairing DNA damage.
What does PMS2 stand for?
PMS2 (PMS1 Homolog 2, Mismatch Repair System Component) is a Protein Coding gene. Diseases associated with PMS2 include Colorectal Cancer, Hereditary Nonpolyposis, Type 4 and Mismatch Repair Cancer Syndrome 4.
What does MLH1 protein do?
The MLH1 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division.
Is MLH1 a tumor suppressor gene?
MLH1 is a tumor suppressor gene involved in DNA mismatch repair. Germline mutations in this gene are known to cause Lynch syndrome. The most common malignancies in Lynch syndrome are colorectal and endometrial carcinomas.