IMD2 antibody, SCNX antibody, THC antibody, THC1 antibody, WASP antibody, U42471 antibody, WASp antibody, Wasp antibody, imd2 antibody, thc antibody, thc1 antibody, was antibody, wasp antibody, wu:fk81c08 antibody, zgc:64164 antibody, Wiskott-Aldrich syndrome antibody, neural Wiskott-Aldrich syndrome protein antibody, wiskott-aldrich syndrome protein antibody, Wiskott-Aldrich syndrome L homeolog antibody, Wiskott-Aldrich syndrome (eczema-thrombocytopenia) b antibody, WAS antibody, LOC5578888 antibody, CpipJ_CPIJ006699 antibody, Was antibody, was.L antibody, wasb antibody
Background
The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients.Synonyms: WASp, Wiskott-Aldrich syndrome protein