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.
Nonoyama
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Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan. snonoyama.ped@med.tmd.ac.jp
Ochs
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HD
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