PMS2 (Postmeiotic Segregation Increased 2) [PMS2/4373R]

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Summary

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.

Product Properties & Targets

Host
Species Reactivity
Isotype
IgG
Cellular Localization
Gene Name
PMS2
Mol. Weight of Antigen
96kDa
Immunogen
Synthetic peptide corresponding to residues within aa1-100 of human PMS2 (exact sequence is proprietary)

Database Links

Entrez Gene ID
Unigene
SwissProt

Additional Information

Clone
PMS2/4373R
Human Gene Symbol
PMS2
Chromosome Location
7p22.2

Known Applications & Suggested Dilutions

  • Flow Cytometry (1-2ug/million cells)
  • Western Blot (1-2ug/ml)
  • Immunofluorescence (1-2ug/ml)
  • ,Immunohistochemistry (Formalin-fixed) (1-2ug/ml for 30 minutes at RT),(Staining of formalin-fixed tissues requires heating tissue sections in 10mM Tris with 1mM EDTA, pH 9.0, for 45 min at 95 &degC followed by cooling at RT for 20 minutes),Optimal dilution for a specific application should be determined.

Storage & Stability

Antibody with azide - store at 2 to 8 °C. Antibody without azide - store at -20 to -80 °C. Antibody is stable for 24 months. Non-hazardous. No MSDS required.

Limitations

This antibody is available for research use only and is not approved for use in diagnosis.

Supplied as

200ug/ml of Ab purified from Bioreactor Concentrate by Protein A/G. Prepared in 10mM PBS with 0.05% BSA & 0.05% azide. Also available WITHOUT BSA & azide at 1.0mg/ml.

Warranty

There are no warranties, expressed or implied, which extend beyond this description. Company is not liable for any personal injury or economic loss resulting from this product.

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