Wiskott-Aldrich syndrome (role of WASP).

S Nonoyama

Journal: Journal of medical and dental sciences 2002;48(1):1-6

PMID: 12160237

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.

Address: Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, Japan. [email protected]

MeSH Terms: Actin Depolymerizing Factors, Amino Acid Motifs, Blood Platelets, Blood Proteins, Carrier Proteins, Cytoskeletal Proteins, Cytoskeleton, Fungal Proteins, GTP Phosphohydrolases, Genotype, Humans, Intracellular Signaling Peptides and Proteins, Microfilament Proteins, Mutation, Phenotype, Phosphoproteins, Proline, Protein Binding, Protein Structure, Tertiary, Proteins, Saccharomyces cerevisiae Proteins, Sequence Homology, Signal Transduction, Wiskott-Aldrich Syndrome, Wiskott-Aldrich Syndrome Protein