RB1


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RB1

A gene on chromosome 13q14.2 that encodes a tumour suppressor protein which is a key regulator of entry into cell division, promoting G0-G1 transition following phosphorylation by CDK3/cyclin-C. RB1 represses transcription of E2F1 target genes. Underphosphorylated,
active forms of RB1 interact with E2F1 and repress its transcription activity, leading to cell cycle arrest. With calcium influx, RB1 is dephosphorylated by calcineurin, leading to release of the repressor complex.  

Molecular pathology
Defects in RB1 cause childhood retinoblastoma, some forms of osteogenic sarcoma and increased susceptibility to bladder cancer.
References in periodicals archive ?
Verificando a massa seca total entre as duas variedades (Figura 2) verificou-se que na condicao controle a variedade RB1 superou a RB2 quanto a producao de massa, de qualquer modo, o aluminio e mais severamente o deficit hidrico promoveram a reducao de massa em ambas as variedades.
Since mounting satellite speakers (Bose Cubes) on the RB1 A/H at ear height, I have only seen them sway or waver on three occasions when I tripped over the unsecured cables or banged into the stands before their final placement.
The weaker effect in the present experiment cannot be attributed to less biased calling, as the mean RB1 score was actually higher in this experiment.
10) Cani et al (52) reported that p53, RB1, and NF1 mutations and EGFR (52,53) and IGF1R gene amplifications were detected in only the malignant tumors.
It arises after two distinct inactivating mutational events in both alleles of the RB1 gene in an immature retinal cell.
What scientists do know is that victims are born with a mutation in the RB1 retinoblastoma gene and that 40 per cent of patients are at risk of getting the cancer in both eyes.
The occurrence of retinoblastoma, for example, was described in families and led to the discovery of its origin in a mutation of the RB1 tumour suppressor gene.
Notably, approximately 20% of these candidate genes have already been implicated in Mendelian diseases, including disease genes for rare forms of cancer susceptibility, such as the breast cancer susceptibility loci BRCA1 and BRCA2, neurofibromin 1 (NF1), retinoblastoma locus RB1, Wilms tumor locus WT1, and ataxia telangiectasia mutated (ATM).
The work is carried out in the contract ~Ny Ellebjerg - RB1 - Interimsperron Ringbanestation~.
Retinoblastoma is the most common intraocular malignant neoplasm in children, with most cases initiated by a mutation of the tumor-suppressor gene RB1.
9] Human genes: MLH1, mutL homolog 1; MSH2, mutS homolog 2; MSH6, mutS homolog 6; PMS2, postmeiotic segregation increased 2; BRCA1, breast cancer 1, early onset; BRCA2, breast cancer 2, early onset; RB1, retinoblastoma 1; TP53, tumor protein p53; VHL, von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase.