Retinoblastoma Protein, Biological and Clinical Functions
pRB is the protein product of the retinoblastoma tumor suppressor gene, RB1. Its biological functions include controlling the cell cycle, preserving genome integrity, mediating differentiation, as well as protecting cells from apoptosis. Mutation of RB1 resulting in functional inactivation of pRB leads to the childhood retinal tumor retinoblastoma and predisposes to osteosarcoma and other cancers. Defective function of pRB or its pathway also contributes to tumor progression in many other cancer types.
The RB1 Gene Encodes the pRB Protein
The RB1 gene contains 27 exons and is located on human chromosome 13q14.2 (NCBI Entrez Gene ID: 5925). The product of RB1is the 110 kDa retinoblastoma susceptibility protein (pRB), composed of 928 amino...
KeywordsCell Cycle Control Hereditary Retinoblastoma Pocket Domain Retinoblastoma Tumor Suppressor Gene NCBI Entrez Gene Database
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