基因名称：WAS （WASP actin nucleation promoting factor）
别名： THC,IMD2,SCNX,THC1,WASP,WASPA
基因ID：7454
Chromosome(GRCh37) ：X Start: 48542186 End: 48549818 Strand:
信号通路：
靶向药：
化疗药：
简介：错误代码（52001）：不可预知的错误，请登陆http://www.sizuo.org/locoy-baidutransapi.html查看解决方案。 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]
WAS突变与药物：
