Western blot analysis of Lane 1: RT-4 cell line, Lane 2: U-251MG sp cell line, Lane 3: A-431 cell line, Lane 4: human liver tissue, and Lane 5: human tonsil tissue with BTK polyclonal antibody (Cat # PAB30229).
Immunohistochemical staining (Formalin-fixed paraffin-embedded sections) of human lymph node shows strong cytoplasmic positivity in reaction center cells and moderate staining in lymphoid cells outside reaction centra with BTK polyclonal antibody (Cat # PAB30229).
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. [provided by RefSeq