Aliases for WAS Gene
External Ids for WAS Gene
Previous HGNC Symbols for WAS Gene
Previous GeneCards Identifiers for WAS Gene
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. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]
GeneCards Summary for WAS Gene
WAS (Wiskott-Aldrich Syndrome) is a Protein Coding gene. Diseases associated with WAS include Thrombocytopenia 1 and Neutropenia, Severe Congenital, X-Linked. Among its related pathways are PAK Pathway and Akt Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and actin binding. An important paralog of this gene is WASL.
UniProtKB/Swiss-Prot for WAS Gene
Effector protein for Rho-type GTPases. Regulates actin filament reorganization via its interaction with the Arp2/3 complex. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet function. Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria.