This gene encodes a cytoplasmic linker or adaptor proteinthat plays a critical role in B cell development. This proteinbridges B cell receptor-associated kinase activation withdownstream signaling pathways, thereby affecting various biologicalfunctions. The phosphorylation of five tyrosine residues isnecessary for this protein to nucleate distinct signaling effectorsfollowing B cell receptor activation. Mutations in this gene causehypoglobulinemia and absent B cells, a disease in which the pro- topre-B-cell transition is developmentally blocked. Deficiency inthis protein has also been shown in some cases of pre-B acutelymphoblastic leukemia. Alternatively spliced transcript variantsencoding different isoforms have been found for this gene.
Pathway
Adaptive Immune System; Antigen Activates B Cell Receptor Leading to Generation of Second Messengers; B Cell Receptor Signaling Pathway; B cell receptor signaling pathway; BCR signaling pathway; Cytokine Signaling in Immune system; Immune System; Interleukin-3, 5 and GM-CSF signaling;
Citations
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