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RB1

Official Full Name
retinoblastoma 1
Background
The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
Synonyms
RB1; retinoblastoma 1; RB; pRb; OSRC; pp110; p105-Rb; retinoblastoma-associated protein; retinoblastoma suspectibility protein; prepro-retinoblastoma-associated protein; OSRC, osteosarcoma; p104; retinoblastoma 1 (including osteosarcoma); zgc:154147; spc

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