Tissue expression
Cell line expression
BTK
gene productAGMX1, ATK, IMD1, PSCTK1, XLA
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. [provided by RefSeq, Dec 2013]
Featured antibodies
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0 references | Monoclonal |
WB
ICC IHC
FC |