Antibody (Suitable for clinical applications)
Specification | Recommendation |
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Recommended Dilution (Conc) | 1:25-1:75 |
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.
Retinoblastoma Gene Protein Information for Pathologists
Summary:
Retinoblastoma Gene Product (Rb) is a 110-114 kDa nuclear protein that plays a crucial role in cell cycle progression by regulating cell cycle arrest at G1-S. It is encoded by a tumor suppressor gene at 13q14. Rb is present in germline mutations or loss predispose to retinoblastoma and osteosarcoma. Somatic mutations cause various tumors
and specific point mutations my inhibit Rb-1 and c-myc binding. For thyroid neoplasms, follicular adenomas were usually positive, follicular and papillary carcinomas were usually negative.
Retinoblastoma Gene Protein General Information | |
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Alternate Names | |
Molecular Weight | |
106.2 kDa | |
Chromosomal Location | |
q14.2 [chr: 13] [chr_start: 48303726] [chr_end: 48599436] [strand: 1] | |
Curated Database and Bioinformatic Data | |
Gene Symbol | RB1 |
Entrez Gene ID | 5925 |
RefSeq Protein Accession(s) | NP_000312 |
RefSeq mRNA Accession(s) | ; NM_000321; XM_011535171 |
RefSeq Genomic Accession(s) | NG_009009; NC_000013 |
UniProt ID(s) | P06400 |
PharmGKB ID(s) | PA295 |
KEGG Gene ID(s) | hsa:5925 |
Associated Diseases (KEGG IDs) | Childhood cancer retinoblastoma (RB) [MIM:180200]: Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20’000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil (‘cat eye’) is investigated. {ECO:0000269|PubMed:10671068, ECO:0000269|PubMed:11524739, ECO:0000269|PubMed:1352883, ECO:0000269|PubMed:2594029, ECO:0000269|PubMed:7704558, ECO:0000269|PubMed:7795591, ECO:0000269|PubMed:7927327, ECO:0000269|PubMed:8346255, ECO:0000269|PubMed:8605116, ECO:0000269|PubMed:8776589, ECO:0000269|PubMed:9140452, ECO:0000269|PubMed:9311732, ECO:0000269|PubMed:9973307}. The disease is caused by mutations affecting the gene represented in this entry.; Bladder cancer (BLC) [MIM:109800]: A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. Disease susceptibility is associated with variations affecting the gene represented in this entry.; Osteogenic sarcoma (OSRC) [MIM:259500]: A sarcoma originating in bone-forming cells, affecting the ends of long bones. The disease is caused by mutations affecting the gene represented in this entry. |
General Description of Retinoblastoma Gene Protein . | |
This antibody recognizes human retinoblastoma gene protein. Rb gene, a prototype of tumor suppressor genes, has been associated with development and/or progression of bladder cancer as well as sarcoma and small cell lung cancer. Functional Rb gene loss has been reported to occur in bladder cancer and osteosarcoma. A significantly poorer tumor-free survival rate was noted for those patients who had a tumor with an altered Rb protein with or without vascular invasion. |
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