Characterization of the Wiskott-Aldrich syndrome protein and its role in the disease.
Wiskott-Aldrich syndrome is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. The Wiskott-Aldrich syndrome protein and the gene that encodes it have been identified by positional cloning and the protein has been shown to contain a pleckstrin-homology domain, a GTPase-binding domain, a proline-rich region and a verprolin/cofilin homology domain. Subsequent studies suggest that the protein is involved in signal transduction and the regulation of the cytoskeleton.
Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan. snonoyama.ped@med.tmd.ac.jp
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D000818:Animals; D006801:Humans; D051379:Mice; D011506:Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology*; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics* / Q000276:immunology; D051316:Wiskott-Aldrich Syndrome Protein
D011506:Proteins; C495767:WAS protein, human; C495768:Was protein, mouse; D051316:Wiskott-Aldrich Syndrome Protein