BTK Rabbit pAb

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. Synonyma: AT, ATK, BPK, XLA, IMD1, AGMX1, IGHD3, PSCTK1, BTK