總結(jié) |
The Wiskott-Aldrich syndrome (WAS) family of proteinsshare similar domain structure, and are involved in transduction ofsignals from receptors on the cell surface to the actincytoskeleton. The presence of a number of different motifssuggests that they are regulated by a number of different stimuli,and interact with multiple proteins. Recent studies havedemonstrated that these proteins, directly or indirectly, associatewith the small GTPase, Cdc42, known to regulate formation of actinfilaments, and the cytoskeletal organizing complex, Arp2/3.Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessivedisease characterized by immune dysregulation andmicrothrombocytopenia, and is caused by mutations in the WAS gene.The WAS gene product is a cytoplasmic protein, expressedexclusively in hematopoietic cells, which show signalling andcytoskeletal abnormalities in WAS patients. A transcript variantarising as a result of alternative promoter usage, and containing adifferent 5' UTR sequence, has been described, however, itsfull-length nature is not known.
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