The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization.
The Wiskott-Aldrich Syndrome (WAS) is a rare X-linked primary immunodeficiency that is characterized by recurrent infections, hematopoietic malignancies, eczema, and thrombocytopenia. A variety of hematopoietic cells are affected by the genetic defect, including lymphocytes, neutrophils, monocytes, and platelets. Early studies noted both signaling and cytoskeletal abnormalities in lymphocytes from WAS patients. Following the identification of WASP, the gene mutated in patients with this syndrome, and the more generally expressed WASP homologue N-WASP, studies have demonstrated that WASP-family molecules associate with numerous signaling molecules known to alter the actin cytoskeleton. WASP/N-WASP may depolymerize actin directly and/or serve as an adaptor or scaffold for these signaling molecules in a complex cascade that regulates the cytoskeleton.
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Center for Blood Research, Boston, Massachusetts 02115, USA.
Rosen
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D000818:Animals; D001792:Blood Platelets / Q000502:physiology; D002874:Chromosome Mapping; D003599:Cytoskeleton / Q000502:physiology; D020558:GTP Phosphohydrolases / Q000378:metabolism; D019204:GTP-Binding Proteins / Q000378:metabolism; D020690:GTPase-Activating Proteins; D006801:Humans; D008214:Lymphocytes / Q000276:immunology; D051379:Mice; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000276:immunology; D010641:Phenotype; D011506:Proteins / Q000235:genetics / Q000276:immunology*; D015398:Signal Transduction; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics / Q000276:immunology / Q000503:physiopathology; D051316:Wiskott-Aldrich Syndrome Protein; D051317:Wiskott-Aldrich Syndrome Protein, Neuronal
D020690:GTPase-Activating Proteins; D009419:Nerve Tissue Proteins; D011506:Proteins; C495767:WAS protein, human; C495771:WASL protein, human; C495768:Was protein, mouse; C495772:Wasl protein, mouse; D051316:Wiskott-Aldrich Syndrome Protein; D051317:Wiskott-Aldrich Syndrome Protein, Neuronal; C085379:rho GTPase-activating protein; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins