The cbl protein acts as an e3 ubiquitin ligase, targeting receptor tyrosine kinases for degradation and negatively regulating rtk signaling pathways. It is expressed in the neural crest cells, pronephr...[+]

The cbl protein acts as an e3 ubiquitin ligase, targeting receptor tyrosine kinases for degradation and negatively regulating rtk signaling pathways. It is expressed in the neural crest cells, pronephros, eye, brain, and branchial arches during development. The protein localizes to the cytoplasm. [-]

          NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA;

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD