Immunogen sequence: MSGGPMGGR PGGRGAPAVQ QNIPSTLLQD HENQRLFEML GRKCLTLATA VVQLYLALPP GAEHWTKEHC GAVCFVKDNP QKSYFIRLYG LQAGRLLWEQ ELYSQLVYST PTPFFHTFAG DDCQAGLNFA DEDEAQAFRA LVQEKIQKRN QRQSGDRRQL PPPPTPANEE RRGGLPPLPL HPGGDQGGPP VGPLSLGLAT VDIQNPDITS SRYRGLPAPG PSPADKKRSG KKKISKADIG APSGFKHVSH VGWDPQNGFD VNNLDPDLRS LFSRAGISEA QLTDAETSKL IYDFIEDQGG LEAVRQEMRR QEPLPPPPPP SRGGNQLPRP PIVGGNKGRS GPLPPVPLGI APPPPTPRGP PPPGRGGPPP PPPPATGRSG PLPPPPPGAG GPPMPPPPPP P (1-400 aa encoded by BC012738)
The Wiskott-Aldrich syndrome 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.
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Protein Aliases: Actin nucleation-promoting factor WAS; eczema-thrombocytopenia; thrombocytopenia 1 (X-linked); WASp; Wiskott-Aldrich syndrome homolog; Wiskott-Aldrich syndrome protein; Wiskott-Aldrich syndrome protein homolog
Gene Aliases: IMD2; SCNX; THC; THC1; U42471; WAS; WASP; WASPA