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  • Title: Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA).
    Author: Vihinen M, Mattsson PT, Smith CI.
    Journal: Front Biosci; 2000 Dec 01; 5():D917-28. PubMed ID: 11102316.
    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, Bmx and Txk 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 380 unique mutations have been identified and are collected in a mutation database, BTKbase. Here, we describe the structure, function, and interactions of the affected signaling molecules in atomic detail.
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