Vihinen M, Mattsson P T, Smith C I
Department of Biosciences, Division of Biochemistry, P. O. Box 56, FIN-00014 University of Helsinki, Finland.
Front Biosci. 1997 Jan 1;2:d27-42. doi: 10.2741/a172.
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.
X连锁无丙种球蛋白血症（XLA）是一种遗传性免疫缺陷疾病，由分化阻滞导致B淋巴细胞和浆细胞几乎完全缺失所致。受影响的蛋白是一种细胞质蛋白酪氨酸激酶，即布鲁顿无丙种球蛋白血症酪氨酸激酶（Btk）。Btk与Tec、Itk和Bmx属于一个独特的蛋白激酶家族。这些蛋白包含五个区域：PH、TH、SH3、SH2和激酶结构域。导致XLA的突变可能影响这些结构域中的任何一个。现已鉴定出约200种独特的突变，并收集在一个突变数据库BTKbase中。在此，我们将详细描述受影响信号分子的结构、功能及相互作用。
