|Other Names||DNA mismatch repair protein Mlh1, MutL protein homolog 1, MLH1, COCA2|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|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-MSH6) 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.|
|Tissue Location||Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart|
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This gene encodes a protein that may function in tumorsuppression. This protein binds to and colocalizes with the breastcancer 2 early onset protein (BRCA2) in nuclear foci and likelypermits the stable intranuclear localization and accumulation ofBRCA2.
Dray, E., et al. Nat. Struct. Mol. Biol. 17(10):1255-1259(2010)Buisson, R., et al. Nat. Struct. Mol. Biol. 17(10):1247-1254(2010)Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Adank, M.A., et al. Pediatr Blood Cancer 55(4):742-744(2010)Guenard, F., et al. Genet Test Mol Biomarkers 14(4):515-526(2010)
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