Anti-MutL Protein Homolog 1(MLH1), clone YN01116m

MutL Protein Homolog 1(MLH1) is a mismatch repair gene, which is located on p-arm 21.3 of chromosome 3. And DNA mismatch repair is very necessary to maintain the integrity of genetic information. The change of microsatellite reproducibility is caused by the slippage of the hinge misalignment during DNA replication, also known as microsatellite instability. The defects of these DNA repair pathways are related to some human tumors. The mutant mismatch repair gene is often expressed in patients with high frequency microsatellite instability (MSI-H), which is related to autosomal dominant genetic diseases. Protein function: 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-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in 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 strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis. [The UniProt Consortium]