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. |
Manufacturers Research Area |
Protein phosphorylation, Signal Transduction, Kinase, Tyrosine kinases, Cell Biology Developmental Biology, Apoptosis, Immunology Inflammation, B Cell Receptor Signaling Pathway, Toll-like Receptor Signaling Pathway, Cell Intrinsic Innate Immunity Signaling Pathway, TLR Signaling |