MLH1 is a DNA mismatch repair protein that heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, and then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in the presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the mismatch strand. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may recruit DNA polymerase III to the site of the MMR. Defects in MLH1 are the cause of hereditary nonpolyposis colorectal cancer type 2 (HNPCC2). Most patients with HNPCC have mutations in either the MLH1 or MSH2 genes (1).
* Shipping is in business days
* OriGene provides validated application data and protocol, with money back guarantee.