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.
应用类型
IHC,WB
免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 173-272 of human BTK (NP_000052.1).
