MLH1 (MutL Homolog 1)
Product Specifications
Gene Name
[MLH1]
NCBI Gene ID
4292
Reactivity
Human
Storage Conditions
Antibody with azide: store at 2 to 8 degree C.<br>Antibody without azide: store at -20 to -80 degree C.<br>Antibody is stable for 24 months. Non-hazardous. No MSDS required.
Specificity
This MAb recognizes a protein of 83kDa, identified as MLH1. Defects in MLH1 are the cause of hereditary non-polyposis colorectal cancer type 2 (HNPCC2).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.
Other Gene Names
[MLH1; MLH1; FCC2; COCA2; HNPCC; hMLH1; HNPCC2; COCA2]
Short Name
[MLH1]
Other Product Names
[DNA mismatch repair protein Mlh1 isoform 1; DNA mismatch repair protein Mlh1; DNA mismatch repair protein Mlh1; mutL homolog 1; MutL protein homolog 1]
NCBI GI Number
4557757
NCBI Accession Number
NP_000240.1
NCBI GB Accession Number
NP_000240.1
Uniprot Accession Number
P40692
Available Sizes
Frequently Asked Questions
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