Rabbit anti-Human MLH1 Polyclonal Antibody

Uniprot Id

P40692

Target Species

Human

Target Name

MLH1

Target Full Name

DNA mismatch repair protein Mlh1

Target 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.

Target Involvement

Hereditary non-polyposis colorectal cancer 2 (HNPCC2); Mismatch repair cancer syndrome (MMRCS); Muir-Torre syndrome (MRTES); Endometrial cancer (ENDMC); Colorectal cancer (CRC)

Target Subcellular Location

Nucleus. Chromosome.

Target Protein Families

DNA mismatch repair MutL/HexB family

Target Tissue Specificity

Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart.

Target Synonyms

COCA 2; COCA2; DNA mismatch repair protein Mlh1; FCC 2; FCC2; hMLH 1; hMLH1; HNPCC 2; HNPCC; HNPCC2; MGC5172; MLH 1; MLH1; MLH1_HUMAN; MutL homolog 1 (E. coli); MutL homolog 1; MutL homolog 1 colon cancer nonpolyposis type 2; MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli); MutL protein homolog 1; MutL, E. coli, homolog of, 1

Target Background

The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC).