Mismatch repair endonuclease PMS2 (PMS2) Recombinant Protein | PMS2 recombinant protein

Recombinant Human Mismatch repair endonuclease PMS2 (PMS2) , partial

Cat. Num. AAA951339

• Gene Names: PMS2; MLH4; PMSL2; HNPCC4; PMS2CL
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Mismatch repair endonuclease PMS2 (PMS2); Recombinant Human Mismatch repair endonuclease PMS2 (PMS2); partial; PMS2 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 1-365. Partial
• Sequence: MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVENSLDAGATNIDLKLKDYGVDLIEVSDNGCGVEEENFEGLTLKHHTSKIQEFADLTQVETFGFRGEALSSLCALSDVTISTCHASAKVGTRLMFDHNGKIIQKTPYPRPRGTTVSVQQLFSTLPVRHKEFQRNIKKEYAKMVQVLHAYCIISAGIRVSCTNQLGQGKRQPVVCTGGSPSIKENIGSVFGQKQLQSLIPFVQLPPSDSVCEEYGLSCSDALHNLFYISGFISQCTHGVGRSSTDRQFFFINRRPCDPAKVCRLVNEVYHMYNRHQYPFVVLNISVDSECVDINVTPDKRQILLQEEKLLLAVLKTSLIGMFDS

• Species: Human
• Preparation and Storage: Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.

Related Product Information for PMS2 recombinant protein

This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene.

NCBI and Uniprot Product Information

• NCBI GI #: 1015181836
• NCBI GeneID: 5395
• NCBI Accession #: NP_000526.2
• NCBI GenBank Nucleotide #: NM_000535.6
• UniProt Accession #: P54278; Q52LH6; Q5FBW9; Q5FBX1; Q5FBX2; Q75MR2; B2R610
• Molecular Weight: 20,073 Da
• NCBI Official Full Name: mismatch repair endonuclease PMS2 isoform a
• NCBI Official Synonym Full Names: PMS1 homolog 2, mismatch repair system component
• NCBI Official Symbol: PMS2
• NCBI Official Synonym Symbols: MLH4; PMSL2; HNPCC4; PMS2CL
• NCBI Protein Information: mismatch repair endonuclease PMS2
• UniProt Protein Name: Mismatch repair endonuclease PMS2
• Protein Family: Mismatch repair endonuclease
• UniProt Gene Name: PMS2

NCBI Description

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. [provided by RefSeq, Apr 2016]

Uniprot Description

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.