disease:Defects in CD79A are a cause of non-Bruton type agammaglobulinemia [MIM:601495]. Agammaglobulinemia is an immunodeficiency disease which results in developmental defects in the maturation pathway of B-cells. Two different mutations, one at the splice donor site of intron 2 and the other at the splice acceptor site for exon 3, have been identified. Both mutations give rise to a truncated protein.,function:Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity with SYK and allowing SY

非质量问题不退换