SH2D1A gene

SH2 domain containing 1A

The SH2D1A gene provides instructions for making a protein called signaling lymphocyte activation molecule (SLAM) associated protein (SAP). SAP interacts with other proteins called SLAM family receptors to activate signaling pathways that are involved in the control of immune cells (lymphocytes). In particular, it helps regulate lymphocytes that destroy other cells (cytotoxic lymphocytes) and is necessary for the development of specialized lymphocytes called natural killer T cells. SAP also helps control immune reactions by triggering self-destruction (apoptosis) of lymphocytes when they are no longer needed.

More than 70 SH2D1A gene mutations have been identified in people with X-linked lymphoproliferative disease (XLP). Some SH2D1A gene mutations impair SAP function. Others result in an abnormally short protein that is unstable or nonfunctional, or prevent any SAP from being produced. The loss of functional SAP disrupts proper control of the immune system and may result in the life-threatening immune reaction to Epstein-Barr virus infection that occurs in this disorder. In addition, cancers of immune system cells (lymphomas) may develop in affected individuals when defective lymphocytes are not properly destroyed by apoptosis.

Cytogenetic Location: Xq25, which is the long (q) arm of the X chromosome at position 25

Molecular Location: base pairs 124,346,282 to 124,373,160 on the X chromosome (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: Xq25, which is the long (q) arm of the X chromosome at position 25
  • DSHP
  • Duncan disease SH2-protein
  • EBVS
  • MTCP1
  • SAP
  • SH2 domain-containing protein 1A
  • signaling lymphocyte activation molecule-associated protein
  • SLAM-associated protein
  • XLP
  • XLPD