Rabbit Monoclonal Antibody to SH2D1A/SAP

This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte~activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2~domain~containing signal~transduction molecule SHP~2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X~linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein~Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]