Products

Fluorescent In Situ Hybridization (Cell)

Entrez GeneID

Gene Name

SH2D1A

Gene Alias

DSHP, EBVS, FLJ18687, FLJ92177, IMD5, LYP, MTCP1, SAP, XLP, XLPD

Gene Description

SH2 domain protein 1A

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

Duncan's disease|OTTHUMP00000023976|SLAM-associated protein|T cell signal transduction molecule SAP|signaling lymphocyte activation molecule-associated protein