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RB1

Somatic tumors
retinoblastoma, sarcoma, breast, small cell lung carcinoma
Tumor types germline
retinoblastoma, sarcoma, breast, small cell lung carcinoma
Cancer Syndrom
familial retinoblastoma
Translocation partner
Name
retinoblastoma gene
Chromosome banding
13q14
Cancer molecular gen.
Rec
Mutation type
D, Mis, N, F, S
Other syndrome disease
Definition     No results

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RB1

The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor genefound. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatinstructure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in thisgene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. (provided byRefSeq, Jul 2008)

The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor genefound

The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatinstructure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in thisgene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. (provided byRefSeq, Jul 2008)

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