null |
Kinase |
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AGMX1; AT; ATK; B-cell progenitor kinase; BPK; Bruton agammaglobulinemia tyrosine kinase; IMD1; PSCTK1; XLA; agammaglobulinaemia tyrosine kinase; dominant-negative kinase-deficient Brutons tyrosine kinase; tyrosine-protein kinase BTK; tyrosine-protein kinase BTK isoform (lacking exon 14) |
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, Nov 2008] |
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