Open Access
BTK, the tyrosine kinase affected in X-linked agammaglobulinemia
M Vihinen1,P T Mattsson1,C I Smith1
Department of Biosciences, Division of Biochemistry, P. O. Box 56, FIN-00014 University of Helsinki, Finland.
DOI: 10.2741/A172 Volume 2 Issue 4, pp.27-42
Published: 01 January 1997

X-linked agammaglobulinemia (XLA) is a heritable immunodeficiency disorder that is caused by a differentiation block leading to almost complete absence of B lymphocytes and plasma cells. The affected protein is a cytoplasmic protein tyrosine kinase, Bruton's agammaglobulinemia tyrosine kinase (Btk). Btk along with Tec, Itk and Bmx belong to a distinct family of protein kinases. These proteins contain five regions; PH, TH, SH3, SH2 and kinase domains. Mutations causing XLA may affect any of these domains. About 200 unique mutations have been identified and are collected in a mutation database, BTKbase. Here, we describle, the structure, function, and interactions of the affected signaling molecules in atomic detail.

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M Vihinen, P T Mattsson, C I Smith. BTK, the tyrosine kinase affected in X-linked agammaglobulinemia. Frontiers in Bioscience-Landmark. 1997. 2(4); 27-42.