Human DNA Mismatch Repair Protein Mlh1 (MLH1) Protein

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Description
Human DNA Mismatch Repair Protein Mlh1 (MLH1) Protein is a recombinant Human protein expressed in E. coli.
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Product specifications
| Category | Proteins and Peptides |
| Immunogen Target | DNA Mismatch Repair Protein Mlh1 (MLH1) |
| Host | E. coli |
| Assay Type | Activity: Not tested Sequence Fragment: Ser2-Val213 Tag: N-terminal His tag |
| Origin | Human |
| Conjugation | Unconjugated |
| Observed MW | Calculated MW: 26.7 kDa Observed MW: 27 kDa |
| Expression | Recombinant |
| Purity | > 90% |
| Size 1 | 10 µg |
| Size 2 | 50 µg |
| Size 3 | 100 µg |
| Size 4 | 200 µg |
| Size 5 | 500 µg |
| Form | Lyophilized |
| Tested Applications | WB, SDS-PAGE |
| Buffer | Prior to lyophilization: PBS, pH 7.4, containing 0.01% Sarcosyl, 1 mM DTT, 5% Trehalose and Proclin-300. |
| Availability | Shipped within 5-7 working days. |
| Storage | Store lyophilized form at 2-8°C for up to 1 month. For longer periods, store lyophilized or liquid at -80°C. Avoid repeated freeze–thaw cycles. |
| Dry Ice | No |
| UniProt ID | P40692 |
| Gene ID | 4292 |
| NCBI Accession | NP_000240.1, NM_000249.3 |
| OMIM | 114500 |
| Background | Protein MLH1 |
| Status | RUO |
| Note | THIS PRODUCT IS FOR RESEARCH USE ONLY. NOT FOR USE IN DIAGNOSTIC, THERAPEUTIC OR COSMETIC PROCEDURES. NOT FOR HUMAN OR ANIMAL CONSUMPTION. To keep the original salt concentration, we recommend reconstituting to the original concentration prior to lyophilization (see Concentration) in ddH2O. If a lower concentration is required, dilute in PBS, pH 7.4. If a higher concentration is required, the product can be reconstituted directly in PBS, pH 7.4, though please note that this will change the overall salt concentration. The stock concentration should be between 0.1-1.0 mg/ml. Do not vortex. Concentration: Prior to lyophilization: 200 µg/ml |
Descripción
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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.
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This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Alternatively spliced transcript variants encoding different isoforms have been described, but their full-length natures have not been determined.
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