PMS1 Homolog 2, Mismatch Repair System Component Peptide 1

CPTC-PMS2-1

PMS1 Homolog 2, Mismatch Repair System Component Peptide 1

IgG

Rabbit Monoclonal Antibody

07/03/2024

Peptide, Recombinant Full-length, Endogenous

00508

PMS1 Homolog 2, Mismatch Repair System Component Peptide 1

CPTC-PMS2 Peptide 1

PMS1 Homolog 2, Mismatch Repair System Component; HNPCC4; PMSL2; MLH4; PMS1 Homolog 2, Mismatch Repair Protein; Mismatch Repair Endonuclease PMS2; DNA Mismatch Repair Protein PMS2; PMS1 Protein Homolog 2; H_DJ0042M02.9; PMS2 Postmeiotic Segregation Increased 2 (S. Cerevisiae); Postmeiotic Segregation Increased (S. Cerevisiae) 2; Postmeiotic Segregation Increased 2 Nirs Variant 6; PMS2 Postmeiotic Segregation Increased 2; EC 3.1.-.-; MMRCS4; PMS2CL

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.PMS2 (PMS1 Homolog 2, Mismatch Repair System Component) is a Protein Coding gene. Diseases associated with PMS2 include Colorectal Cancer, Hereditary Nonpolyposis, Type 4 and Mismatch Repair Cancer Syndrome 4. Among its related pathways are Mismatch Repair and Direct p53 effectors. Gene Ontology (GO) annotations related to this gene include ATP hydrolysis activity and endonuclease activity. An important paralog of this gene is PMS1.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-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.

7p22.1

NP_000526.2

P54278

N/A

Synthetic Peptide

N/A

1870

01/20/2022