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

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

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

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

CBL has been shown to interact with:

• GRB2
• CRKL
• CBLB
• FYN
• ZAP-70

See also

• Cbl (gene)
• E3 ubiquitin-protein ligase
• Noonan syndrome
• Myeloproliferative disorder

External links

• CBL gene at NCBI
• CBL gene at Genetics Home Reference