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The retinoblastoma protein (protein name abbreviated Rb or pRb; gene name abbreviated Rb, RB or RB1) is a tumor suppressor protein that is dysfunctional in several major cancers. [5] One function of pRb is to prevent excessive cell growth by inhibiting cell cycle progression until a cell is ready to divide.
238247 Ensembl ENSG00000032219 ENSMUSG00000048118 UniProt P29374 F8VPQ2 RefSeq (mRNA) NM_002892 NM_023000 NM_023001 NM_001081195 RefSeq (protein) NP_002883 NP_075376 NP_075377 NP_001074664 Location (UCSC) Chr 14: 58.3 – 58.37 Mb Chr 12: 71.02 – 71.1 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse AT rich interactive domain 4A (RBP1-like), also known as ARID4A, is a protein which ...
Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina, [2] the light-detecting tissue of the eye. [3] It is the most common primary malignant intraocular cancer in children, and 80% of retinoblastoma cases are first detected in those under 3 years old.
He went on to be diagnosed with retinoblastoma, a rare childhood cancer
This eventually led to the discovery of a new therapy for retinoblastoma. [3] She discovered the fundamental principles of tumor suppressor genes and developed a new methodology to identify the RB1 gene. [1] These tests accurately identified children at risk of developing retinoblastoma before they are born. [4]
In the children with inherited retinoblastoma, the first mutation in what later came to be identified as the RB1 gene, was inherited, the second one acquired. In non-inherited retinoblastoma, instead two mutations, or "hits", had to take place before a tumor could develop, explaining the later onset.
The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB.
The activation of E2F-3a genes follows upon the growth factor stimulation and the subsequent phosphorylation of the E2F inhibitor retinoblastoma protein, pRB. The phosphorylation of pRB is initiated by cyclin D/cdk4, cdk6 complex and continued by cyclin E/cdk2.