BTK gene

Last updated on: 18.04.2022

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Definition
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BTK(Bruton tyrosine kinase) is a protein-coding gene located on the X chromosome at gene locus Xq22. An important paralog of this gene is TEC. The protein encoded by the BTK gene is a non-receptor tyrosine kinase (Bruton's tyrosine kinase) that is essential for B lymphocyte development, differentiation and signaling.

General information
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Binding of antigen to the B cell antigen receptor (BCR) triggers signal transduction that ultimately leads to B cell activation. BTK acts as a platform for the assembly of a variety of signaling proteins and is involved in cytokine receptor signaling pathways. Furthermore, the kinase plays an important role in the function of immune cells of innate and adaptive immunity as a component of the Toll-like receptor (TLR) signaling pathway. The TLR pathway functions as a primary surveillance system for pathogen recognition and is critical for the activation of host defense. BTK is involved in the signaling pathway that links TLR8 and TLR9 to NF-kappa-B.

Clinical picture
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Diseases associated with BTK include congenital agammaglobulinemia, X-linked (agammaglobulinemia type Bruton) and isolated growth hormone deficiency type IGHD3 (short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia), X-linked recessive).

Note(s)
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Related signaling pathways include "PEDF Induced Signaling" and the "B cell receptor signaling pathway(KEGG)".

Literature
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  1. Burger JA (2019) Bruton tyrosine kinase inhibitors: present and future. Cancer J 25:386-393.
  2. Brullo C et al (2021) Btk Inhibitors: A Medicinal Chemistry and Drug Delivery Perspective. Int J Mol Sci 22:7641.
  3. Castillo JJ et al (2016) Inhibition of the Bruton Tyrosine Kinase Pathway in B-Cell Lymphoproliferative Disorders. Cancer J 22:34-39.
  4. Fancher KMet al.(2020) Drug interactions with Bruton's tyrosine kinase inhibitors: clinical implications and management. Cancer Chemother Pharmacol 86: 507-515.
  5. Pablo Engel JA et al (2011) Therapeutic targeting of B cells for rheumatic autoimmune diseases. Pharmacol Rev 63: 127-156.
  6. Pal Singh S et al (2018) Role of Bruton's tyrosine kinase in B cells and malignancies. Mol Cancer 19: 57

Last updated on: 18.04.2022