BTK : Bruton tyrosine kinase
Description
The BTK gene, located on chromosome X, provides instructions for making Bruton‘s tyrosine kinase (BTK), an essential enzyme involved in the signaling pathways of immune cells, primarily B cells. BTK plays a vital role in B cell development, activation, and antibody production. Mutations in the BTK gene can disrupt these processes, leading to various immune system disorders.
Associated Diseases
- X-linked agammaglobulinemia (XLA)
- Chronic lymphocytic leukemia (CLL)
- Acute lymphoblastic leukemia (ALL)
- Waldenström macroglobulinemia
- Multiple myeloma
Did you know?
BTK mutations are responsible for X-linked agammaglobulinemia (XLA), a severe immune deficiency disorder characterized by the absence of B cells and antibodies.
