Q06187

Btk(also designated BTK, or Bruton tyrosine kinase) is necessary for proper B cell development, and mutations in the gene encoding Btk have been associated with families suffering from X-linked agammaglobulinemia, also referred to as Bruton′s disease. The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms.