Full Name: Bruton Tyrosine Kinase
BACKGROUND: 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.
Synonyms: AGMX1; AT; ATK; BPK; IMD1; PSCTK1; XLA
Research Areas: Cancer
Pathways: Cancer Pathway
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