- Catalog number
- A01028-1
- Size / count
- 100 µg/Vial
- Dry ice
- No
- Hazardous
- No
- Discontinued
- No
- Background
- Mismatch repair endonuclease PMS2 is an enzyme that in humans is encoded by the PMS2 gene. The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA (X) 2E (X) 4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome.
- Synonyms
- PMS1 homolog 2, mismatch repair system component; Pms2 protein; Pms2
- Gene Name
- Pms2
- Gene ID
- 18861
- UniProt
- B1H246
- Host
- Rabbit
- Reactivity
- Mouse, Rat
- Cross Reactivity
- No cross-reactivity with other proteins.
- Immunogen
- E.coli-derived rat PMS2 recombinant protein (Position: K21-S612) .
- Clonality
- Polyclonal
- Tissue Specificity
- Predominantly expressed in dendritic cells and in DC-residing tissues. Also found in placental macrophages, endothelial cells of placental vascular channels, peripheral blood mononuclear cells, and THP-1 monocytes.
- Applications
- ELISA, WB
- Field of Research
- Signal Transduction
- Purification
- Immunogen affinity purified.
- Concentration
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Form
- Lyophilized
- Reconstitution
- Add 0.2ml of distilled water will yield a concentration of 500ug/ml.
- Function
- Component of the post-replicative DNA mismatch repair system (MMR) . Heterodimerizes with MLH1 to form MutL alpha. 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.
- References & Citations
- 1. Auclair, J., Leroux, D., Desseigne, F., Lasset, C., Saurin, J. C., Joly, M. O., Pinson, S., Xu, X. L., Montmain, G., Ruano, E., Navarro, C., Puisieux, A., Wang, Q. Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. Hum. Mutat. 28: 1084-1090, 2007. 2. Baker, S. M., Bronner, C. E., Zhang, L., Plug, A. W., Robatzek, M., Warren, G., Elliott, E. A., Yu, J., Ashley, T., Arnheim, N., Flavell, R. A., Liskay, R. M. Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell 82: 309-319, 1995. 3. Borras, E., Pineda, M., Cadinanos, J., del Valle, J., Brieger, A., Hinrichsen, I., Cabanillas, R., Navarro, M., Brunet, J., Sanjuan, X., Musulen, E., van der Klift, H., Lazaro, C., Plotz, G., Blanco, I., Capella, G. Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. J. Med. Genet. 50: 552-563, 2013.
- Storage Conditions
- Store at -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freeze-thaw cycles.
- Calculated Molecular Weight
- 47579 MW
- Observed Molecular Weight
- 120 kDa
- Specificity
- No cross reactivity with other proteins.
- Gene Name Synonym
- PMS1 homolog2, mismatch repair system component
- Subcellular Location
- Nucleus.
- Protein Name
- PMS1 homolog 2, mismatch repair system component
- Isotype
- Rabbit IgG
- Contents
- Each vial contains 4mg Trehalose, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg NaN3.
