Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA).
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Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA)
The gene responsible for X-linked agammaglobulinemia (XLA) has been recently identified to code for a cytoplasmic tyrosine kinase (Bruton's agammaglobulinemia tyrosine kinase, BTK), required for normal B cell development. BTK, like many other cytoplasmic tyrosine kinases, contains Src homology domains (SH2 and SH3), and catalytic kinase domain. SH3 domains are important for the targeting of sig...
متن کاملDeletion within the Src Homology Domain 3 of Bruton ' s Tyrosine Kinase Resulting in X - linked
From the *Department of Pediatrics, University of Washington, Seattle, Washington 98195; *Howard Hughes Medical Institute, University of California at Los Angeles, Los Angeles, California 90024-1662; $Center for Structural Biochemistry, and the IICenter for Biotechnology and Department of Clinical Immunology, Karolinska Institute, NOVUM, S-14157 Huddinge, Sweden; and the ~Department of Immunolo...
متن کاملBruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA).
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 prote...
متن کاملBTK, the tyrosine kinase affected in X-linked agammaglobulinemia.
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 c...
متن کاملBTKbase, mutation database for X-linked agammaglobulinemia (XLA)
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 368 entries from 318 unrelated families showing 228 unique molecular events. In addition to mutations the database lists also some polymorphisms and site-directed...
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ژورنال
عنوان ژورنال: Journal of Experimental Medicine
سال: 1994
ISSN: 0022-1007,1540-9538
DOI: 10.1084/jem.180.2.461