Profil protéine

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.

Alternative names and synonyms associated with SH2 Domain Containing 1A (SH2D1A)

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

• DSHP anticorps
• EBVS anticorps
• Gm686 anticorps
• IMD5 anticorps
• LYP anticorps
• Afficher tous les alias de synonymes
• MTCP1 anticorps
• RGD1562408 anticorps
• SAP anticorps
• SAP/SH2D1A anticorps
• SH2D1A anticorps
• XLP anticorps
• XLPD anticorps

Protein level used designations for SH2D1A

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