The abnormal gene in X-linked lymphoproliferative syndrome.
The gene defect responsible for X-linked lymphoproliferative syndrome, SH2D1A (SH2-domain-containing gene 1A), was recently cloned. This gene encodes a small protein of 128 amino acids containing a single SH2 domain, which is thought to play an important role in signal transduction in activated T cells. The definition of SH2D1A protein function will provide insight into the pathogenesis of fatal Epstein-Barr virus infection, lymphomas, Hodgkins disease, immunodeficiency, aplastic anemia and lymphohistiocytic disorders that characterize the syndrome.
Sullivan
J L
JL
Program in Molecular Medicine, University of Massachusetts Medical School, 373 Plantation Street, Biotech II, Suite 318, Worcester, MA 01605, USA. John.Sullivan@umassmed.edu
D002352:Carrier Proteins / Q000235:genetics*; D003001:Cloning, Molecular; D008040:Genetic Linkage; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008232:Lymphoproliferative Disorders / Q000235:genetics*; D009154:Mutation; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D014960:X Chromosome; D018909:src Homology Domains
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein