| genes, retinoblastoma | Tumour suppressor genes located on human chromosome 13 in the region 13q14 and coding for a family of phosphoproteins with molecular weights ranging from 104 kD to 115 kD. One copy of the wild-type rb gene is necessary for normal retinal development. Loss or inactivation of both alleles at this locus results in retinoblastoma. (12 Dec 1998) |
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| retinoblastoma | <oncology, tumour> Malignant tumour of the retina, usually arising in the inner nuclear layer of the neural retina. Retinoblastoma is unusual in being caused by an autosomal dominant mutation in some cases (about 6%), in which case it may be bilateral. The gene product of the retinoblastoma gene is a tumour suppressor that interacts with transcription factors such as E2F to block transcription of growth regulating genes. The Rb gene plays a role in normal development, not just that of the retina. Inheritance: autosomal dominant. (03 Jul 1999) |
| retinoblastoma protein | <molecular biology, protein> Product of the retinoblastoma tumour suppressor gene. It is a nuclear phosphoprotein hypothesised to normally act as an inhibitor of cell proliferation. Rb protein is absent in retinoblastoma cell lines. It also has been shown to form complexes with the adenovirus e1a protein, the sv40 t antigen, and the human papilloma virus e7 protein. (03 Jul 1999) |