CBL proto-oncogene acts as a RING finger E3 ubiquitin ligase, transfers ubiquitin from specific E2 ubiquitin-conjugating enzymes to targeting substrates for degradation by the proteasome(1). The N-terminal phosphotyrosine binding domain of CBL allows the interaction with the substrates containing phosphorylated tyrosine including the activated receptor tyrosine kinases, which plays the negative regulation of these pathways (1). Mutation or translocation of CBL is involved in acute myeloid leukemia, Jacobsen syndrome and Noonan syndrome-like disorder (2, 3).
C-CBL; CBL2; FRA11B; NSLL; RNF55
1. Howlett C.J., et.al. The proto-oncogene p120 (Cbl) is a downstream substrate of the Hck protein-tyrosine kinase. Biochem. Biophys. Res. Commun. 257:129-138, 1999.
2. Muraoka M, et.al. Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy. J Hum Genet. Jun; 61(6): 523-6, 2016.
3. Martinelli S., et.al. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am. J. Hum. Genet. 87:250-257, 2010.
Sample Purity Data. For specific information on a given lot, see related technical data sheet.
Storage, Stability, and Shipping:
Store product at –70oC. For optimal storage, aliquot target into smaller quantities after centrifugation and store at recommended temperature. For most favorable performance, avoid repeated handling and multiple freeze/thaw cycles.
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Cancer, Cellular Stress, Inflammation