Antibody (Suitable for clinical applications)
Specification | Recommendation |
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Recommended Dilution (Conc) | Only Available as Predilute |
Pretreatment | EDTA Buffer pH 8.0 |
Incubation Parameters | 30 min at Room Temperature |
Prior to use, inspect vial for the presence of any precipitate or other unusual physical properties. These can indicate that the antibody has degraded and is no longer suitable for patient samples. Please run positive and negative controls simultaneously with all patient samples to account and control for errors in laboratory procedure. Use of methods or materials not recommended by enQuire Bio including change to dilution range and detection system should be routinely validated by the user.
PMS2 Information for Pathologists
Summary:
PMS2 is a component of the DNA mismatch repair system. The PMS2 gene (on chromosome 7) encodes an endonuclease that forms a heterodimer with MLH1 to form the MutL alpha complex which is activated upon recognition of DNA mismatches, insertions or deletions by MutS alpha and MutS beta heterodimers. Essential features Germ line mutations in PMS2 are associated with increased risk of colorectal cancer, hereditary nonpolyposis colon cancer, Lynch syndrome, Turcot syndrome and endometrial cancer. Milder microsatellite instability (less risk of developing cancer compared to MLH1 mutations).
PMS2 General Information | |
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Alternate Names | |
Molecular Weight | |
95.8 kDa | |
Chromosomal Location | |
p22.1 [chr: 7] [chr_start: 5970925] [chr_end: 6009106] [strand: -1] | |
Curated Database and Bioinformatic Data | |
Gene Symbol | PMS2 |
Entrez Gene ID | 5395 |
RefSeq Protein Accession(s) | NP_001308937; NP_001308943; NP_001308933; NP_001308944; NP_001308934; NP_001308932; NP_001308936; NP_001308940; XP_016885888; NP_000526; NP_001308935; NP_001308939; NP_001308938; NP_001308941; NP_001308942 |
RefSeq mRNA Accession(s) | NM_001322004; NM_001322011; NM_001322012; XM_024446800; NM_001322003; NM_001322009; NM_001322015; NM_001322005; XM_017012342; NM_000535; NM_001322008; NM_001322010; NM_001322014; NM_001322006; NM_001322007; NR_136154; XM_006715744; NM_001322013 |
RefSeq Genomic Accession(s) | NC_000007; NG_008466 |
UniProt ID(s) | P54278 |
PharmGKB ID(s) | PA33448 |
KEGG Gene ID(s) | hsa:5395 |
Associated Diseases (KEGG IDs) | Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term ‘suspected HNPCC’ or ‘incomplete HNPCC’ can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. {ECO:0000269|PubMed:10480359, ECO:0000269|PubMed:11793469, ECO:0000269|PubMed:15887124, ECO:0000269|PubMed:16472587, ECO:0000269|PubMed:16619239, ECO:0000269|PubMed:18178629, ECO:0000269|PubMed:18602922, ECO:0000269|PubMed:19479271, ECO:0000269|PubMed:23709753, ECO:0000269|PubMed:24027009}. The disease is caused by mutations affecting the gene represented in this entry.; Mismatch repair cancer syndrome (MMRCS) [MIM:276300]: An autosomal recessive, rare, childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. Areas of skin hypopigmentation have also been reported in MMRCS patients. {ECO:0000269|PubMed:15077197, ECO:0000269|PubMed:17557300, ECO:0000269|PubMed:27435373, ECO:0000269|PubMed:7661930, ECO:0000269|PubMed:9419979}. The disease is caused by mutations affecting the gene represented in this entry. |
General Description of PMS2 . | |
Postmeiotic segregation increased 2 or PMS2 was originally discovered in S. cerevisiae and is part of the mismatch repair system. It resides on 7p22.2 and its gene product partners with MLH1 to help detect mismatches in DNA . Mutations in PMS2 have been reported in about two percent of families with Lynch syndrome (hereditary nonpolyposis colorectal cancer). |
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