| Clone | QM003 |
|---|---|
| REF | C-M001 |
| Dilution | 1:100 – 1:200 |
| Immunogen | Synthetic peptide of human MLH1 |
| Isotype | IgG1 |
| Species of origin | Mouse |
DNA mismatch repair (MMR) system consists of four major proteins called MLH1, MSH2, MSH6, and PMS2. These proteins work two by two, MLH1 with PMS2 and MSH2 with MSH6. Loss of function of one of the four proteins leads to inactivation of the MMR system, resulting in a loss of fidelity of the replication and an accumulation of mutations thereby leading to microsatellite instability (MSI).
MSI is associated with hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome), which is characterized by the development of colorectal cancer, endometrial cancer and various other tumors at early age.
Loss of MLH1 function due to gene mutation or epigenetic changes is characterized by absence of nuclear expression in neoplastic cells, whereas intact nuclear MLH1 expression indicates normal MLH1 function and no gene mutations. MLH1 is normally expressed in most cases of sporadic colorectal cancer, loss of MLH1 expression is found in 30-40%.
Anti-MLH1 is useful in detection of MSI, especially in a panel with MSH6 (QR011), PMS2 (QR009) and MSH2 (QR010).
