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  • Title: BTK, the tyrosine kinase affected in X-linked agammaglobulinemia.
    Author: Vihinen M, Mattsson PT, Smith CI.
    Journal: Front Biosci; 1997 Jan 01; 2():d27-42. PubMed ID: 9159207.
    Abstract:
    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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