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]
Alternative Names
Duncan disease homolog Duncan disease SH2-protein Duncan's disease FLJ18687 FLJ92177 HGNC:10820 RP5-1052M9.3 SAP SH2 domain protein 1A SH2D1A signaling lymphocyte activation molecule-associated protein signaling lymphocytic activation molecule-associated protein signalling lymhpocyte-activation molecule signalling lymphocyte-activation molecule SLAM associated protein/SH2 domain protein 1A SLAM-associated protein T cell signal transduction molecule SAP T-cell signal transduction molecule SAP