PMS2
Reactivity: Human
ELISA, IF
Host: Mouse
Monoclonal
4A8
unconjugated
Application Notes
Optimal dilution of the PMS2 antibody should be determined by the researcher.
Restrictions
For Research Use only
Format
Liquid
Concentration
0.2 mg/mL
Buffer
0.2 mg/mL in 1X PBS with 0.1 mg/mL BSA (US sourced), 0.05 % sodium azide
Preservative
Sodium azide
Precaution of Use
This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
Storage
-20 °C
Storage Comment
Aliquot the PMS2 antibody and store frozen at -20oC or colder. Avoid repeated freeze-thaw cycles.
Target
PMS2
(PMS2 Postmeiotic Segregation Increased 2 (S. Cerevisiae) (PMS2))
Alternative Name
PMS2
Background
PMS2 is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Defects in PMS2 are the cause of hereditary non-polyposis colorectal cancer type 4 (HNPCC4). Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers 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, and accounts for 15 % of all colon cancers. Defects in PMS2 are a cause of mismatch repair cancer syndrome (MMRCS), also known as Turcot syndrome or brain tumor-polyposis syndrome 1 (BTPS1). MMRCS is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots.