SH2 domain-containing protein 1A (SH2D1A)

SH2 domain-containing protein 1A (abbreviated SH2D1A; also known as SLAM-associated protein, SAP) is a cytoplasmic adaptor protein containing an SH2 domain, mainly expressed in lymphocytes[1][2][4]. It plays a critical role in the immune system by regulating signal transduction from signaling lymphocytic activation molecule (SLAM) family receptors and controlling lymphocyte activation, particularly T, B, and natural killer (NK) cells[2][4]. SH2D1A is essential for normal immune cell development and the induction of apoptosis in lymphocytes when they are no longer needed[2][4]. Mutations in the SH2D1A gene are the cause of X-linked lymphoproliferative disease (XLP or Duncan disease), resulting in an abnormal or absent protein that leads to severe immunodeficiency, heightened susceptibility to Epstein-Barr virus infection, and a strong predisposition to lymphoma and other immune dysregulation conditions[1][2][4][7]. SH2D1A works as a key modulator or inhibitor of SLAM family receptor signaling, and its absence disrupts the regulation of cytotoxic lymphocytes and NKT cell development[1][2][4][7].

Other names

DSHPSAPSLAM-associated proteinXLPMTCP1XLPDEBVSDuncan disease SH2-proteinsignaling lymphocyte activation molecule-associated proteinT cell signal transduction molecule SAPLYPIMD5SH2 domain protein 1ASH2D1A