CBL (gene)
CBL (Casitas B-lineage Lymphoma) is a gene that encodes a member of the Cbl family of E3 ubiquitin-protein ligases. CBL proteins play a crucial role in cell signaling and cancer development.
Function[edit | edit source]
The CBL gene is involved in the intracellular signaling pathways of many cell surface receptors involved with cellular growth, differentiation, and apoptosis. These receptors include EGFR, PDGFR, and c-Met. The protein encoded by the CBL gene functions as a negative regulator of many signaling pathways that start from these cell surface receptors.
Clinical significance[edit | edit source]
Mutations in the CBL gene have been associated with Noonan syndrome and myeloproliferative disorder, both of which are conditions that affect multiple systems of the body.
Structure[edit | edit source]
The CBL protein has a modular structure consisting of an N-terminal tyrosine kinase binding (TKB) domain, a linker region, a RING finger domain, a proline-rich region, and a C-terminal ubiquitin-associated (UBA) domain.
Interactions[edit | edit source]
CBL has been shown to interact with:
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
