CBL

CBL (also known as Casitas B-lineage Lymphoma) is a gene that is found in humans. It is a member of the Cbl family of proteins, which play a crucial role in cell signaling. The CBL gene provides instructions for making a protein that helps control the activities of other proteins by marking them for degradation. This process, known as ubiquitination, is important for maintaining the normal function of cells.

Function

The CBL protein is involved in several cellular processes, including cell growth and division, the maturation of cells to carry out specific functions (cell differentiation), and the self-destruction of cells (apoptosis). The protein is also involved in immune system function by regulating the activity of certain types of white blood cells.

Clinical significance

Mutations in the CBL gene have been associated with a variety of health conditions, including juvenile myelomonocytic leukemia, Noonan syndrome, and other disorders of the blood and immune system.

See also

• Ubiquitin-proteasome system
• Signal transduction
• Leukemia
• Noonan syndrome

External links

• CBL gene at National Center for Biotechnology Information
• CBL gene at Genetics Home Reference

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