Protein Domain : SH2 protein 1A IPR017289

Type	Family
Description	SH2 domain-containing protein 1A (SH2D1A) is an adaptor protein that appears to regulate B-cell differentiation via switching of SLAM (CD150)-mediated signalling pathways [ ]. The SLAM receptor is expressed on activated T and B lymphocytes. SH2D1A inhibits SLAM self-association. SH2D1A acts by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic region []. Defects in SH2D1A are a cause of lymphoproliferative syndrome X-linked type 1 (XLP1) (OMIM:308240), which is also known as X-linked lymphoproliferative disease (XLPD) or Duncan disease [ ]. XLP is a rare immunodeficiency characterised by extreme susceptibility to infection with Epstein-Barr virus (EBV) (HHV-4) (Human herpesvirus 4). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma.
Short Name	SH2_prot_1A