Disease:Defects in SH2D1A are a cause of lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]; also known as X-linked lymphoproliferative disease (XLPD) or Duncan disease. XLP is a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma.,Function:Inhibitor of the SLAM self-association. Acts by blocking recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic region. Mediates interaction between FYN and SLAMF1.,online information:SH2D1A mutation db,similarity:Contains 1 SH2 domain.,subunit:Interacts with CD84, CD244, LY9, SLAMF1 and FYN.,tissue specificity:Expressed at a high level in thymus and lung, with a lower level of expression in spleen and liver.,
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