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Antibody (Suitable for clinical applications)
Application Notes
| Specification | Recommendation |
|---|---|
| Recommended Dilution (Conc) | 1:100-1:200 |
| Pretreatment | Citrate Buffer pH 6.0 |
| 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.
Catenin, beta Information for Pathologists
Summary:
Protein encoded by CTNNB1 gene, coordinates cell-cell adhesion and gene transcription (Wikipedia: Beta Catenin [Accessed 18 December 2018]). Pathophysiology Part of Wnt signalling pathway, highly conserved pathway with critical role in embryologic development (Dev Cell 2009;17:9), carcinogenesis and epithelial-to-mesenchymal transition. Upon Wnt activation, ? catenin is translocated from membrane (where it interacts with E-cadherin) to cytoplasm and nucleus, where it interacts with transcriptional activators. Clinical features
Notable Clinical Features:
Mutations and overexpression of ? catenin are associated with various carcinomas. Colon: plays a critical role in tumorigenesis (mutations in APC or ? catenin present in 90% of colon cancers). Thyroid: pathway important for anaplastic and possibly papillary thyroid carciomas (Front Endocrinol (Lausanne) 2012;3:31). Uterus: endometrioid endometrial carcinoma is associated with ? catenin mutations. Diagrams / tables
Common Uses By Pathologists:
Interpretation: nuclear staining is significant in fibroblasts; nuclear or cytoplasmic staining is significant in epithelial cells. Classify hepatocellular adenoma subtypes and distinguish from focal nodular hyperplasia (Am J Surg Pathol 2012;36:1691, Int J Hepatol 2013;2013:268625, Hum Pathol 2013;44:750). Positive / mutated in fibromatosis (Mod Pathol 2012;25:1551). Distinguish mesenteric fibromatosis (positive with nuclear staining due to mutations in APC / ? catenin pathway causing nuclear accumulation) from GIST tumors (negative) and sclerosing mesenteritis (negative, Am J Surg Pathol 2002;26:1296). Distinguish fibromatosis (diffuse or rarely focal nuclear staining for deep tumors) from low grade fibromyxoid sarcoma and other myofibroblastic, or fibroblastic tumors / sarcomas (negative for nuclear staining, Am J Surg Pathol 2005;29:653).
| Catenin, beta General Information | |
|---|---|
| Alternate Names | |
| Molecular Weight | |
| 85.5 kDa | |
| Chromosomal Location | |
| p22.1 [chr: 3] [chr_start: 41194741] [chr_end: 41260096] [strand: 1] | |
| Curated Database and Bioinformatic Data | |
| Gene Symbol | CTNNB1 |
| Entrez Gene ID | 1499 |
| RefSeq Protein Accession(s) | NP_001895; NP_001091679; XP_005264943; NP_001091680; XP_016861227 |
| RefSeq mRNA Accession(s) | XM_006712983; XM_024453357; NM_001904; XM_017005738; XM_024453359; XM_024453360; NM_001098209; XM_024453358; NM_001330729; XM_024453356; NM_001098210; XM_006712985 |
| RefSeq Genomic Accession(s) | NG_013302; NC_000003 |
| UniProt ID(s) | P35222 |
| PharmGKB ID(s) | PA27013 |
| KEGG Gene ID(s) | hsa:1499 |
| Associated Diseases (KEGG IDs) | Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:9065402}. The gene represented in this entry may be involved in disease pathogenesis.; Activating mutations in CTNNB1 have oncogenic activity resulting in tumor development. Somatic mutations are found in various tumor types, including colon cancers, ovarian and prostate carcinomas, hepatoblastoma (HB), hepatocellular carcinoma (HCC). HBs are malignant embryonal tumors mainly affecting young children in the first three years of life.; Pilomatrixoma (PTR) [MIM:132600]: Common benign skin tumor. {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:12027456}. The gene represented in this entry is involved in disease pathogenesis.; Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. {ECO:0000269|PubMed:10666372, ECO:0000269|PubMed:12027456}. The gene represented in this entry may be involved in disease pathogenesis.; Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:10391090}. Disease susceptibility is associated with variations affecting the gene represented in this entry.; A chromosomal aberration involving CTNNB1 is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(3;8)(p21;q12) with PLAG1.; Mesothelioma, malignant (MESOM) [MIM:156240]: An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. {ECO:0000269|PubMed:11464291}. The gene represented in this entry may be involved in disease pathogenesis.; Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]: An autosomal dominant disorder characterized by global developmental delay, severe intellectual disability with absent or very limited speech, microcephaly, spasticity, and visual abnormalities. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:25326669, ECO:0000269|PubMed:28514307}. The disease is caused by mutations affecting the gene represented in this entry.; Vitreoretinopathy, exudative 7 (EVR7) [MIM:617572]: A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. {ECO:0000269|PubMed:28575650}. The disease is caused by mutations affecting the gene represented in this entry. |
| General Description of Catenin, beta . | |
| This antibody reacts with a 92 kDa protein, known as beta-catenin. The catenins (alpha, beta and γ) are ubiquitously expressed cytoplasmic proteins, which are associated with E-cadherin. beta-catenin can also bind to APC. Cadherin/catenin complexes are linked to the cytoskeleton via a direct association between alpha-actinin and alpha-catenin. | |
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