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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.
DSHP; Duncan disease homolog; Duncan disease SH2-protein; Duncan's disease; EBVS; FLJ18687; FLJ92177; Gm686; HGNC:10820; IMD5; LYP; MTCP1; RGD1562408; RP5-1052M9.3; SAP; SAP/SH2D1A; SH2 domain containing 1A; SH2 domain protein 1A; SH2 domain-containing protein 1A; SH2D1A; signaling lymphocyte activation molecule-associated protein; signaling lymphocytic activation molecule-associated protein; SLAM associated protein/SH2 domain protein 1A; SLAM-associated protein; SLAM-associated protein isoform SAP-2; T cell signal transduction molecule SAP; T-cell signal transduction molecule SAP; Xlp; XLPD; XLPD1
100 µg
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