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skos:definition |
NCI: B-Cell Linker, encoded by the BLNK gene, is essential for normal B-cell development. This protein interfaces the B-cell receptor-associated SYK tyrosine kinase with PLC-gamma, the VAV guanine nucleotide exchange factor, and the GRB2 and NCK adaptor proteins. Tyrosine phosphorylation of B-Cell Linker by SYK provides docking sites for these SH2-containing effector molecules that, in turn permits the phosphorylation and/or activation of their respective signaling pathways. Thus, B-Cell Linker represents a central linker protein that bridges the B-cell receptor-associated kinases with a multitude of signaling pathways and may regulate biologic outcomes of B-cell function and development. The somatic loss of the BLNK gene and the accompanying block in pre-B-cell differentiation might be one of the primary causes of childhood pre-B ALL. (From OMIM and NCI)
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