INTENDED USE |
IVD |
SPECIES REACTIVITY |
Human |
SOURCE |
Mouse Monoclonal |
CLONE |
A16-4 |
ISOTYPE |
IgG1/K |
ANTIGEN |
PMS2 |
LOCALIZATION |
Nuclear |
POSITIVE CONTROL |
Placenta |
The PMS2 post meotic segregation increased 2 gene is located on
chromosome number 7. The gene product of PMS2 forms a heterodimer with MLH1 that
interacts with MSH2 bound to mismatched bases in DNA. MSH2 is a protein of 934
aa (100 kDa) localized to the cell nucleus. MSH2 functions as one of the four
major DNA mismatch repair genes along with PMS2, MLH1 and PMS1. Mutations in
these genes are associated with hereditary nonpolyposis colon cancer (HNPCC),
one of the most common hereditary diseases in man. Immunohistochemistry studies
have further determined that the microsatellite instability phenotype in
endometrial carcinoma is linked to defects in the MLH1/PMS2
gene.