Bruton tyrosine kinase

Bruton tyrosine kinase (often abbreviated as BTK) is an enzyme that in humans is encoded by the BTK gene. BTK is a member of the tyrosine kinase family and plays a crucial role in B-cell maturation. A mutation in this gene leads to Bruton's agammaglobulinemia, a primary immunodeficiency disease.

Function

BTK plays a key role in the B-cell receptor signaling pathway. It is involved in the maturation and differentiation of B-cells, which are a type of white blood cell that produces antibodies. When BTK is activated, it initiates a cascade of reactions that leads to the activation of various transcription factors, which in turn stimulate the expression of genes necessary for B-cell function and growth.

Clinical significance

Mutations in the BTK gene can lead to Bruton's agammaglobulinemia, a condition characterized by a lack of mature B-cells and, consequently, a severely compromised immune system. This condition is named after Colonel Ogden Bruton, who first described it in 1952.

In recent years, BTK inhibitors have been developed as a new class of drugs for the treatment of various B-cell malignancies, such as chronic lymphocytic leukemia and mantle cell lymphoma. These drugs work by blocking the activity of BTK, thereby preventing the growth and survival of the cancerous B-cells.

See also

• Tyrosine kinase
• B-cell receptor
• Bruton's agammaglobulinemia
• Chronic lymphocytic leukemia
• Mantle cell lymphoma