Description
CBL(Cbl proto-oncogene) is also known as C-CBL, RNF55, CBL2 and E3 ubiquitin protein ligase. CBL is mapped to chromosome 11q23.3-qter by molecular characterization of the breakpoints in 2 somatic cell hybrids. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes(E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia. Mutations in this gene are also the cause of Noonan syndrome-like disorder