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SH2D1A / SAP
SH2 domain containing 1A
SH2D1A / SAP is 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.
| Gene Name: | SH2 domain containing 1A |
| Synonyms: | SH2D1A, LYP, IMD5, SH2 domain protein 1A, SH2 domain containing 1A, XLP, XLPD, DSHP, Duncan disease SH2-protein, EBVS, Lymphoproliferative syndrome, SAP, SLAM-associated protein |
| Target Sequences: | NM_002351 NP_002342.1 O60880 |
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