title: Wiskott-Aldrich syndrome (role of WASP).
abstract: Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. WASP, the gene responsible for WAS, has been identified by positional cloning, contains a PH domain, a GBD domain, a proline rich region, and a verprolin/cofilin homology domain. Subsequent studies suggest that WASP is involved in signal transduction and in the regulation of the cytoskeleton.
authors.affiliation: Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, Japan. snonoyama.ped@tmd.ac.jp
authors.forename: S
authors.initials: S
authors.lastname: Nonoyama
mesh_terms: D051339:Actin Depolymerizing Factors; D020816:Amino Acid Motifs / Q000235:genetics; D001792:Blood Platelets / Q000378:metabolism; D001798:Blood Proteins / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D003598:Cytoskeletal Proteins; D003599:Cytoskeleton / Q000648:ultrastructure; D005656:Fungal Proteins / Q000235:genetics; D020558:GTP Phosphohydrolases / Q000378:metabolism; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008840:Microfilament Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics; D011392:Proline / Q000235:genetics; D011485:Protein Binding / Q000235:genetics; D017434:Protein Structure, Tertiary / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D029701:Saccharomyces cerevisiae Proteins; D017385:Sequence Homology; D015398:Signal Transduction / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics* / Q000276:immunology; D051316:Wiskott-Aldrich Syndrome Protein
chemical_list: D051339:Actin Depolymerizing Factors; D001798:Blood Proteins; D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D005656:Fungal Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008840:Microfilament Proteins; D010750:Phosphoproteins; D011506:Proteins; D029701:Saccharomyces cerevisiae Proteins; C090350:VRP1 protein, S cerevisiae; C495767:WAS protein, human; C109903:WIPF1 protein, human; D051316:Wiskott-Aldrich Syndrome Protein; C039077:platelet protein P47; D011392:Proline; D020558:GTP Phosphohydrolases