IMD2 Protein, SCNX Protein, THC Protein, THC1 Protein, WASP Protein, U42471 Protein, WASp Protein, Wasp Protein, imd2 Protein, thc Protein, thc1 Protein, was Protein, wasp Protein, wu:fk81c08 Protein, zgc:64164 Protein, Wiskott-Aldrich syndrome Protein, neural Wiskott-Aldrich syndrome protein Protein, wiskott-aldrich syndrome protein Protein, Wiskott-Aldrich syndrome L homeolog Protein, Wiskott-Aldrich syndrome (eczema-thrombocytopenia) b Protein, WAS Protein, LOC5578888 Protein, CpipJ_CPIJ006699 Protein, Was Protein, was.L Protein, wasb Protein
Hintergrund
Synonyms: IMD2,THC,WASP Gene Description: Wiskott-Aldrich syndrome (eczema-thrombocytopenia) Gene Name: WAS Gene Summary: 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. GenBank: BC012738.2, AAH12738.1