SH2 Domain Containing 1A Proteine (SH2D1A)

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.

• SH2 domain containing 1A (SH2D1A)
• SH2 domain containing 1A (Sh2d1a)

• DSHP Protein
• EBVS Protein
• Gm686 Protein
• IMD5 Protein
• LYP Protein
• Alle Synonyme
• MTCP1 Protein
• RGD1562408 Protein
• SAP Protein
• SAP/SH2D1A Protein
• SH2D1A Protein
• XLP Protein
• XLPD Protein

Duncan disease SH2-protein , SH2 domain-containing protein 1A , SLAM associated protein/SH2 domain protein 1A , SLAM-associated protein , T cell signal transduction molecule SAP , T-cell signal transduction molecule SAP , signaling lymphocyte activation molecule-associated protein , signaling lymphocytic activation molecule-associated protein , SH2 domain protein 1A , SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome) , Signaling lymphocytic activation molecule-associated protein , Duncan disease homolog