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Ordering Information
- : AB3247
- : 50 µg
- : 1 mg/mL
Anti-Post Meiotic Segregation Increased 2
| Species Reactivity | Key Applications | Host | Format | Antibody Type |
|---|---|---|---|---|
| H | IP, WB | Rabbit | Affinity Purified | Polyclonal Antibody |
Description:
Anti-Post Meiotic Segregation Increased 2
Trade Name:
Chemicon (Millipore)
Specificity:
Post Meiotic Segregation Increased 2 (PMS2).
SPECIES REACTIVITIES:
Other species have not been tested.
SPECIES REACTIVITIES:
Other species have not been tested.
Immunogen:
Synthetic peptide corresponding to a portion of human PMS2 encoded within exon 2.
Species Reactivity:
Human
Application Notes:
Western blot: 1:500-1:5,000
Immunoprecipitation: 1 to 4 μL
Optimal working dilutions must be determined by the end user.
Immunoprecipitation: 1 to 4 μL
Optimal working dilutions must be determined by the end user.
Presentation:
Affinity purified immunoglobulin. Liquid in Tris-citrate/phosphate, pH 7-8 containing 0.1% sodium azide.
Storage Conditions:
Maintain at 2-8°C in undiluted for up to 6 months after date of receipt.
UniProt Number:
Entrez Gene Number:
Gene Symbol:
- PMS2
- HNPCC4
- H_DJ0042M02.9
- PMS2CL
- PMSL2
Alternate Names:
PMS2
Usage Statement:
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
Entrez Gene Summary:
This gene is one of the PMS2 gene family members which are found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. The protein forms a heterodimer with MLH1 and this complex interacts with MSH2 bound to mismatched bases. Defects in this gene are associated with hereditary nonpolyposis colorectal cancer, with a Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed.
Key Applications:
- Immunoprecipitation
- Western Blotting
UniProt Summary:
FUNCTION: SwissProt: P54278 # Involved in the repair of mismatches in DNA.
SIZE: 862 amino acids; 95798 Da
SUBUNIT: Heterodimer of PMS2 and MLH1. Part of the BRCA1- associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains.
SUBCELLULAR LOCATION: Nucleus.
DISEASE: SwissProt: P54278 # Defects in PMS2 are the cause of hereditary non-polyposis colorectal cancer type 4 (HNPCC4) [MIM:600259]. 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. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an 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. & Defects in PMS2 are a cause of Turcot syndrome [MIM:276300]. Turcot syndrome 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. & Defects in PMS2 are a cause of supratentorial primitive neuroectodermal tumors with cafe-au-lait spots (SNTCL) [MIM:608623]. Supratentorial primitive neuroectodermal tumor (SPNET) is a rare and aggressive embryonal tumor, most likely derived from primitive neuroepithelial cells. SPNET has a poor prognosis, with median survival of less than 2 years.
SIMILARITY: SwissProt: P54278 ## Belongs to the DNA mismatch repair mutL/hexB family.
SIZE: 862 amino acids; 95798 Da
SUBUNIT: Heterodimer of PMS2 and MLH1. Part of the BRCA1- associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains.
SUBCELLULAR LOCATION: Nucleus.
DISEASE: SwissProt: P54278 # Defects in PMS2 are the cause of hereditary non-polyposis colorectal cancer type 4 (HNPCC4) [MIM:600259]. 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. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an 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. & Defects in PMS2 are a cause of Turcot syndrome [MIM:276300]. Turcot syndrome 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. & Defects in PMS2 are a cause of supratentorial primitive neuroectodermal tumors with cafe-au-lait spots (SNTCL) [MIM:608623]. Supratentorial primitive neuroectodermal tumor (SPNET) is a rare and aggressive embryonal tumor, most likely derived from primitive neuroepithelial cells. SPNET has a poor prognosis, with median survival of less than 2 years.
SIMILARITY: SwissProt: P54278 ## Belongs to the DNA mismatch repair mutL/hexB family.
Qty/Pk:
50 µg
Brand Family:
Chemicon
Format:
Affinity Purified
Host:
Rabbit
Product Name:
Anti-Post Meiotic Segregation Increased 2
Concentration:
1 mg/mL
Antibody Type:
Polyclonal Antibody